Genomics Reporting Implementation Guide (STU1)
This page is part of the Genetic Reporting Implementation Guide (v1.0.0: STU 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions 
<Bundle xmlns="http://hl7.org/fhir"> <id value="oncology-report-example"/> <type value="transaction"/> <entry> <fullUrl value="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17"/> <resource> <Organization> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>identifier</b>: CEGAT</p><p><b>name</b>: CEGAT</p></div> </text> <identifier> <system value="http://molit.eu/fhir/genomics/NamingSystem/organization"/> <value value="CEGAT"/> </identifier> <name value="CEGAT"/> </Organization> </resource> <request> <method value="POST"/> <url value="Organization"/> <ifNoneExist value="identifier=http://molit.eu/fhir/genomics/NamingSystem/organization|CEGAT"/> </request> </entry> <entry> <fullUrl value="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648"/> <resource> <Patient> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>identifier</b>: 11111</p></div> </text> <identifier> <system value="http://molit.eu/fhir/genomics/NamingSystem/cegat/patID"/> <value value="11111"/> </identifier> </Patient> </resource> <request> <method value="POST"/> <url value="Patient"/> <ifNoneExist value="identifier=http://molit.eu/fhir/genomics/NamingSystem/cegat/patID|11111"/> </request> </entry> <entry> <fullUrl value="urn:uuid:a2041c83-b73d-4fc8-9466-4ba4a92da516"/> <resource> <Specimen> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>identifier</b>: UNKNOWN</p><p><b>type</b>: Tumor <span style="background: LightGoldenRodYellow">(Details : {http://terminology.hl7.org/CodeSystem/v2-0487 code 'TUMOR' = 'Tumor', given as 'Tumor'})</span></p><p><b>subject</b>: <a href="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648">urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648</a></p><h3>Collections</h3><table class="grid"><tr><td>-</td><td><b>Method</b></td><td><b>BodySite</b></td></tr><tr><td>*</td><td>Biopsie <span style="background: LightGoldenRodYellow">(Details : {http://molit.eu/fhir/IG_TODO code 'Biopsy' = 'Biopsy', given as 'Biopsie'})</span></td><td>C16.0 <span style="background: LightGoldenRodYellow">(Details : {http://example.org/fhir/sid/icd-9-cm code 'C16.0' = 'C16.0)</span></td></tr></table></div> </text> <identifier> <system value="http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID"/> <value value="UNKNOWN"/> </identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0487"/> <code value="TUMOR"/> <display value="Tumor"/> </coding> </type> <subject> <reference value="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648"/> </subject> <collection> <method> <coding> <system value="http://molit.eu/fhir/IG_TODO"/> <code value="Biopsy"/> <display value="Biopsie"/> </coding> </method> <bodySite> <coding> <system value="http://example.org/fhir/sid/icd-9-cm"/> <code value="C16.0"/> </coding> </bodySite> </collection> </Specimen> </resource> <request> <method value="POST"/> <url value="Specimen"/> <ifNoneExist value="identifier=http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID|UNKNOWN"/> </request> </entry> <entry> <fullUrl value="urn:uuid:dac358c3-403a-4dbb-b478-4259aed882ae"/> <resource> <Observation> <meta> <profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/> </meta> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>meta</b>: </p><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style="background: LightGoldenRodYellow">(Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)</span></p><p><b>code</b>: Genetic variant assessment <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69548-6' = 'Genetic variant assessment', given as 'Genetic variant assessment'})</span></p><p><b>subject</b>: <a href="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648">urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648</a></p><p><b>performer</b>: <a href="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17">urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17</a></p><p><b>value</b>: Present <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})</span></p><p><b>method</b>: Sequencing <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA26398-0' = 'Sequencing', given as 'Sequencing'})</span></p><p><b>specimen</b>: </p><blockquote><p><b>component</b></p><p><b>code</b>: Genomic source class <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48002-0' = 'Genomic source class [Type]', given as 'Genomic source class'})</span></p><p><b>value</b>: Somatic <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA6684-0' = 'Somatic', given as 'Somatic'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Gene studied [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48018-6' = 'Gene studied [ID]', given as 'Gene studied [ID]'})</span></p><p><b>value</b>: PIK3CA <span style="background: LightGoldenRodYellow">(Details : {http://www.genenames.org/geneId code 'HGNC:8975' = 'HGNC:8975', given as 'PIK3CA'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Human reference sequence assembly version <span style="background: LightGoldenRodYellow">(Details : {LOINC code '62374-4' = 'Human reference sequence assembly version', given as 'Human reference sequence assembly version'})</span></p><p><b>value</b>: GRCh37 <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA14029-5' = 'GRCh37', given as 'GRCh37'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change (c.HGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48004-6' = 'DNA change (c.HGVS)', given as 'DNA change (c.HGVS)'})</span></p><p><b>value</b>: c.3140A>G <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'c.3140A>G' = 'c.3140A>G', given as 'c.3140A>G'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change type <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48019-4' = 'DNA Change Type', given as 'DNA change type'})</span></p><p><b>value</b>: substitution <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:1000002' = 'SO:1000002', given as 'substitution'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change (pHGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48005-3' = 'Amino acid change (pHGVS)', given as 'Amino acid change (pHGVS)'})</span></p><p><b>value</b>: p.H1047R <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'p.H1047R' = 'p.H1047R', given as 'p.H1047R'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: functional-annotation <span style="background: LightGoldenRodYellow">(Details : {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes code 'functional-annotation' = 'functional-annotation', given as 'functional-annotation'})</span></p><p><b>value</b>: missense_variant <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:0001583' = 'SO:0001583', given as 'missense_variant'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Transcript reference sequence [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '51958-7' = 'Transcript reference sequence [ID]', given as 'Transcript reference sequence [ID]'})</span></p><p><b>value</b>: NM_006218.3 <span style="background: LightGoldenRodYellow">(Details : {http://www.ncbi.nlm.nih.gov/refseq code 'NM_006218.3' = 'NM_006218.3', given as 'NM_006218.3'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic ref allele [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69547-8' = 'Genomic ref allele [ID]', given as 'Genomic ref allele [ID]'})</span></p><p><b>value</b>: A</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Sample VAF <span style="background: LightGoldenRodYellow">(Details : {LOINC code '81258-6' = 'Sample variant allelic frequency [NFr]', given as 'Sample VAF'})</span></p><p><b>value</b>: 0.2188 relative frequency of a particular allele in the specimen<span style="background: LightGoldenRodYellow"> (Details: UCUM code 1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Allelic read depth <span style="background: LightGoldenRodYellow">(Details : {LOINC code '82121-5' = 'Allelic read depth', given as 'Allelic read depth'})</span></p><p><b>value</b>: 64.0 reads per base pair<span style="background: LightGoldenRodYellow"> (Details: UCUM code {reads}/{base} = '{reads}/{base}')</span></p></blockquote></div> </text> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="69548-6"/> <display value="Genetic variant assessment"/> </coding> </code> <subject> <reference value="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648"/> </subject> <performer> <reference value="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17"/> </performer> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA9633-4"/> <display value="Present"/> </coding> </valueCodeableConcept> <method> <coding> <system value="http://loinc.org"/> <code value="LA26398-0"/> <display value="Sequencing"/> </coding> </method> <specimen> <identifier> <system value="http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID"/> <value value="UNKNOWN"/> </identifier> </specimen> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48002-0"/> <display value="Genomic source class"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA6684-0"/> <display value="Somatic"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48018-6"/> <display value="Gene studied [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.genenames.org/geneId"/> <code value="HGNC:8975"/> <display value="PIK3CA"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="62374-4"/> <display value="Human reference sequence assembly version"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA14029-5"/> <display value="GRCh37"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48004-6"/> <display value="DNA change (c.HGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="c.3140A>G"/> <display value="c.3140A>G"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48019-4"/> <display value="DNA change type"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:1000002"/> <display value="substitution"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48005-3"/> <display value="Amino acid change (pHGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="p.H1047R"/> <display value="p.H1047R"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes"/> <code value="functional-annotation"/> <display value="functional-annotation"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:0001583"/> <display value="missense_variant"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="51958-7"/> <display value="Transcript reference sequence [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/refseq"/> <code value="NM_006218.3"/> <display value="NM_006218.3"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69547-8"/> <display value="Genomic ref allele [ID]"/> </coding> </code> <valueString value="A"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81258-6"/> <display value="Sample VAF"/> </coding> </code> <valueQuantity> <value value="0.2188"/> <unit value="relative frequency of a particular allele in the specimen"/> <system value="http://unitsofmeasure.org"/> <code value="1"/> </valueQuantity> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="82121-5"/> <display value="Allelic read depth"/> </coding> </code> <valueQuantity> <value value="64.0"/> <unit value="reads per base pair"/> <system value="http://unitsofmeasure.org"/> <code value="{reads}/{base}"/> </valueQuantity> </component> </Observation> </resource> <request> <method value="POST"/> <url value="Observation"/> </request> </entry> <entry> <fullUrl value="urn:uuid:1d773d66-cec7-44a2-b92a-46d00adeae00"/> <resource> <Observation> <meta> <profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/> </meta> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>meta</b>: </p><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style="background: LightGoldenRodYellow">(Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)</span></p><p><b>code</b>: Genetic variant assessment <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69548-6' = 'Genetic variant assessment', given as 'Genetic variant assessment'})</span></p><p><b>subject</b>: <a href="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648">urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648</a></p><p><b>performer</b>: <a href="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17">urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17</a></p><p><b>value</b>: Present <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})</span></p><p><b>method</b>: Sequencing <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA26398-0' = 'Sequencing', given as 'Sequencing'})</span></p><p><b>specimen</b>: </p><blockquote><p><b>component</b></p><p><b>code</b>: Genomic source class <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48002-0' = 'Genomic source class [Type]', given as 'Genomic source class'})</span></p><p><b>value</b>: Somatic <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA6684-0' = 'Somatic', given as 'Somatic'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Gene studied [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48018-6' = 'Gene studied [ID]', given as 'Gene studied [ID]'})</span></p><p><b>value</b>: NRAS <span style="background: LightGoldenRodYellow">(Details : {http://www.genenames.org/geneId code 'HGNC:7989' = 'HGNC:7989', given as 'NRAS'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Human reference sequence assembly version <span style="background: LightGoldenRodYellow">(Details : {LOINC code '62374-4' = 'Human reference sequence assembly version', given as 'Human reference sequence assembly version'})</span></p><p><b>value</b>: GRCh37 <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA14029-5' = 'GRCh37', given as 'GRCh37'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change (c.HGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48004-6' = 'DNA change (c.HGVS)', given as 'DNA change (c.HGVS)'})</span></p><p><b>value</b>: c.34G>T <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'c.34G>T' = 'c.34G>T', given as 'c.34G>T'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change type <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48019-4' = 'DNA Change Type', given as 'DNA change type'})</span></p><p><b>value</b>: substitution <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:1000002' = 'SO:1000002', given as 'substitution'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change (pHGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48005-3' = 'Amino acid change (pHGVS)', given as 'Amino acid change (pHGVS)'})</span></p><p><b>value</b>: p.G12C <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'p.G12C' = 'p.G12C', given as 'p.G12C'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: functional-annotation <span style="background: LightGoldenRodYellow">(Details : {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes code 'functional-annotation' = 'functional-annotation', given as 'functional-annotation'})</span></p><p><b>value</b>: missense_variant <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:0001583' = 'SO:0001583', given as 'missense_variant'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Transcript reference sequence [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '51958-7' = 'Transcript reference sequence [ID]', given as 'Transcript reference sequence [ID]'})</span></p><p><b>value</b>: NM_002524.4 <span style="background: LightGoldenRodYellow">(Details : {http://www.ncbi.nlm.nih.gov/refseq code 'NM_002524.4' = 'NM_002524.4', given as 'NM_002524.4'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic ref allele [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69547-8' = 'Genomic ref allele [ID]', given as 'Genomic ref allele [ID]'})</span></p><p><b>value</b>: C</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Sample VAF <span style="background: LightGoldenRodYellow">(Details : {LOINC code '81258-6' = 'Sample variant allelic frequency [NFr]', given as 'Sample VAF'})</span></p><p><b>value</b>: 0.1793 relative frequency of a particular allele in the specimen<span style="background: LightGoldenRodYellow"> (Details: UCUM code 1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Allelic read depth <span style="background: LightGoldenRodYellow">(Details : {LOINC code '82121-5' = 'Allelic read depth', given as 'Allelic read depth'})</span></p><p><b>value</b>: 145.0 reads per base pair<span style="background: LightGoldenRodYellow"> (Details: UCUM code {reads}/{base} = '{reads}/{base}')</span></p></blockquote></div> </text> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="69548-6"/> <display value="Genetic variant assessment"/> </coding> </code> <subject> <reference value="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648"/> </subject> <performer> <reference value="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17"/> </performer> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA9633-4"/> <display value="Present"/> </coding> </valueCodeableConcept> <method> <coding> <system value="http://loinc.org"/> <code value="LA26398-0"/> <display value="Sequencing"/> </coding> </method> <specimen> <identifier> <system value="http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID"/> <value value="UNKNOWN"/> </identifier> </specimen> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48002-0"/> <display value="Genomic source class"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA6684-0"/> <display value="Somatic"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48018-6"/> <display value="Gene studied [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.genenames.org/geneId"/> <code value="HGNC:7989"/> <display value="NRAS"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="62374-4"/> <display value="Human reference sequence assembly version"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA14029-5"/> <display value="GRCh37"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48004-6"/> <display value="DNA change (c.HGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="c.34G>T"/> <display value="c.34G>T"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48019-4"/> <display value="DNA change type"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:1000002"/> <display value="substitution"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48005-3"/> <display value="Amino acid change (pHGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="p.G12C"/> <display value="p.G12C"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes"/> <code value="functional-annotation"/> <display value="functional-annotation"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:0001583"/> <display value="missense_variant"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="51958-7"/> <display value="Transcript reference sequence [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/refseq"/> <code value="NM_002524.4"/> <display value="NM_002524.4"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69547-8"/> <display value="Genomic ref allele [ID]"/> </coding> </code> <valueString value="C"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81258-6"/> <display value="Sample VAF"/> </coding> </code> <valueQuantity> <value value="0.1793"/> <unit value="relative frequency of a particular allele in the specimen"/> <system value="http://unitsofmeasure.org"/> <code value="1"/> </valueQuantity> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="82121-5"/> <display value="Allelic read depth"/> </coding> </code> <valueQuantity> <value value="145.0"/> <unit value="reads per base pair"/> <system value="http://unitsofmeasure.org"/> <code value="{reads}/{base}"/> </valueQuantity> </component> </Observation> </resource> <request> <method value="POST"/> <url value="Observation"/> </request> </entry> <entry> <fullUrl value="urn:uuid:842d9ab9-d940-4f0c-adf9-e5c528f5c0e5"/> <resource> <Observation> <meta> <profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/> </meta> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>meta</b>: </p><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style="background: LightGoldenRodYellow">(Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)</span></p><p><b>code</b>: Genetic variant assessment <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69548-6' = 'Genetic variant assessment', given as 'Genetic variant assessment'})</span></p><p><b>subject</b>: <a href="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648">urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648</a></p><p><b>performer</b>: <a href="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17">urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17</a></p><p><b>value</b>: Present <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})</span></p><p><b>method</b>: Sequencing <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA26398-0' = 'Sequencing', given as 'Sequencing'})</span></p><p><b>specimen</b>: </p><blockquote><p><b>component</b></p><p><b>code</b>: Genomic source class <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48002-0' = 'Genomic source class [Type]', given as 'Genomic source class'})</span></p><p><b>value</b>: Somatic <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA6684-0' = 'Somatic', given as 'Somatic'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Gene studied [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48018-6' = 'Gene studied [ID]', given as 'Gene studied [ID]'})</span></p><p><b>value</b>: FBXW7 <span style="background: LightGoldenRodYellow">(Details : {http://www.genenames.org/geneId code 'HGNC:16712' = 'HGNC:16712', given as 'FBXW7'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Human reference sequence assembly version <span style="background: LightGoldenRodYellow">(Details : {LOINC code '62374-4' = 'Human reference sequence assembly version', given as 'Human reference sequence assembly version'})</span></p><p><b>value</b>: GRCh37 <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA14029-5' = 'GRCh37', given as 'GRCh37'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change (c.HGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48004-6' = 'DNA change (c.HGVS)', given as 'DNA change (c.HGVS)'})</span></p><p><b>value</b>: c.1394G>A <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'c.1394G>A' = 'c.1394G>A', given as 'c.1394G>A'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change type <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48019-4' = 'DNA Change Type', given as 'DNA change type'})</span></p><p><b>value</b>: substitution <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:1000002' = 'SO:1000002', given as 'substitution'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change (pHGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48005-3' = 'Amino acid change (pHGVS)', given as 'Amino acid change (pHGVS)'})</span></p><p><b>value</b>: p.R465H <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'p.R465H' = 'p.R465H', given as 'p.R465H'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: functional-annotation <span style="background: LightGoldenRodYellow">(Details : {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes code 'functional-annotation' = 'functional-annotation', given as 'functional-annotation'})</span></p><p><b>value</b>: missense_variant <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:0001583' = 'SO:0001583', given as 'missense_variant'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Transcript reference sequence [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '51958-7' = 'Transcript reference sequence [ID]', given as 'Transcript reference sequence [ID]'})</span></p><p><b>value</b>: NM_001349798.2 <span style="background: LightGoldenRodYellow">(Details : {http://www.ncbi.nlm.nih.gov/refseq code 'NM_001349798.2' = 'NM_001349798.2', given as 'NM_001349798.2'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic ref allele [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69547-8' = 'Genomic ref allele [ID]', given as 'Genomic ref allele [ID]'})</span></p><p><b>value</b>: C</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Sample VAF <span style="background: LightGoldenRodYellow">(Details : {LOINC code '81258-6' = 'Sample variant allelic frequency [NFr]', given as 'Sample VAF'})</span></p><p><b>value</b>: 0.1053 relative frequency of a particular allele in the specimen<span style="background: LightGoldenRodYellow"> (Details: UCUM code 1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Allelic read depth <span style="background: LightGoldenRodYellow">(Details : {LOINC code '82121-5' = 'Allelic read depth', given as 'Allelic read depth'})</span></p><p><b>value</b>: 57.0 reads per base pair<span style="background: LightGoldenRodYellow"> (Details: UCUM code {reads}/{base} = '{reads}/{base}')</span></p></blockquote></div> </text> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="69548-6"/> <display value="Genetic variant assessment"/> </coding> </code> <subject> <reference value="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648"/> </subject> <performer> <reference value="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17"/> </performer> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA9633-4"/> <display value="Present"/> </coding> </valueCodeableConcept> <method> <coding> <system value="http://loinc.org"/> <code value="LA26398-0"/> <display value="Sequencing"/> </coding> </method> <specimen> <identifier> <system value="http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID"/> <value value="UNKNOWN"/> </identifier> </specimen> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48002-0"/> <display value="Genomic source class"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA6684-0"/> <display value="Somatic"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48018-6"/> <display value="Gene studied [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.genenames.org/geneId"/> <code value="HGNC:16712"/> <display value="FBXW7"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="62374-4"/> <display value="Human reference sequence assembly version"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA14029-5"/> <display value="GRCh37"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48004-6"/> <display value="DNA change (c.HGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="c.1394G>A"/> <display value="c.1394G>A"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48019-4"/> <display value="DNA change type"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:1000002"/> <display value="substitution"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48005-3"/> <display value="Amino acid change (pHGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="p.R465H"/> <display value="p.R465H"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes"/> <code value="functional-annotation"/> <display value="functional-annotation"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:0001583"/> <display value="missense_variant"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="51958-7"/> <display value="Transcript reference sequence [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/refseq"/> <code value="NM_001349798.2"/> <display value="NM_001349798.2"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69547-8"/> <display value="Genomic ref allele [ID]"/> </coding> </code> <valueString value="C"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81258-6"/> <display value="Sample VAF"/> </coding> </code> <valueQuantity> <value value="0.1053"/> <unit value="relative frequency of a particular allele in the specimen"/> <system value="http://unitsofmeasure.org"/> <code value="1"/> </valueQuantity> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="82121-5"/> <display value="Allelic read depth"/> </coding> </code> <valueQuantity> <value value="57.0"/> <unit value="reads per base pair"/> <system value="http://unitsofmeasure.org"/> <code value="{reads}/{base}"/> </valueQuantity> </component> </Observation> </resource> <request> <method value="POST"/> <url value="Observation"/> </request> </entry> <entry> <fullUrl value="urn:uuid:9a9f9a4a-52e3-4738-bd0b-a25374bbf358"/> <resource> <Observation> <meta> <profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/> </meta> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>meta</b>: </p><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style="background: LightGoldenRodYellow">(Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)</span></p><p><b>code</b>: Genetic variant assessment <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69548-6' = 'Genetic variant assessment', given as 'Genetic variant assessment'})</span></p><p><b>subject</b>: <a href="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648">urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648</a></p><p><b>performer</b>: <a href="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17">urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17</a></p><p><b>value</b>: Present <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})</span></p><p><b>method</b>: Sequencing <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA26398-0' = 'Sequencing', given as 'Sequencing'})</span></p><p><b>specimen</b>: </p><blockquote><p><b>component</b></p><p><b>code</b>: Genomic source class <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48002-0' = 'Genomic source class [Type]', given as 'Genomic source class'})</span></p><p><b>value</b>: Somatic <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA6684-0' = 'Somatic', given as 'Somatic'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Gene studied [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48018-6' = 'Gene studied [ID]', given as 'Gene studied [ID]'})</span></p><p><b>value</b>: KMT2D <span style="background: LightGoldenRodYellow">(Details : {http://www.genenames.org/geneId code 'HGNC:7133' = 'HGNC:7133', given as 'KMT2D'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Human reference sequence assembly version <span style="background: LightGoldenRodYellow">(Details : {LOINC code '62374-4' = 'Human reference sequence assembly version', given as 'Human reference sequence assembly version'})</span></p><p><b>value</b>: GRCh37 <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA14029-5' = 'GRCh37', given as 'GRCh37'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change (c.HGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48004-6' = 'DNA change (c.HGVS)', given as 'DNA change (c.HGVS)'})</span></p><p><b>value</b>: c.7900_7901delCA <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'c.7900_7901delCA' = 'c.7900_7901delCA', given as 'c.7900_7901delCA'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change type <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48019-4' = 'DNA Change Type', given as 'DNA change type'})</span></p><p><b>value</b>: deletion <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:0000159' = 'SO:0000159', given as 'deletion'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change (pHGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48005-3' = 'Amino acid change (pHGVS)', given as 'Amino acid change (pHGVS)'})</span></p><p><b>value</b>: p.Q2634Afs*20 <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'p.Q2634Afs*20' = 'p.Q2634Afs*20', given as 'p.Q2634Afs*20'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: functional-annotation <span style="background: LightGoldenRodYellow">(Details : {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes code 'functional-annotation' = 'functional-annotation', given as 'functional-annotation'})</span></p><p><b>value</b>: frameshift <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:0000865' = 'SO:0000865', given as 'frameshift'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Transcript reference sequence [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '51958-7' = 'Transcript reference sequence [ID]', given as 'Transcript reference sequence [ID]'})</span></p><p><b>value</b>: NM_003482.3 <span style="background: LightGoldenRodYellow">(Details : {http://www.ncbi.nlm.nih.gov/refseq code 'NM_003482.3' = 'NM_003482.3', given as 'NM_003482.3'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic ref allele [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69547-8' = 'Genomic ref allele [ID]', given as 'Genomic ref allele [ID]'})</span></p><p><b>value</b>: CTG</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Sample VAF <span style="background: LightGoldenRodYellow">(Details : {LOINC code '81258-6' = 'Sample variant allelic frequency [NFr]', given as 'Sample VAF'})</span></p><p><b>value</b>: 0.188 relative frequency of a particular allele in the specimen<span style="background: LightGoldenRodYellow"> (Details: UCUM code 1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Allelic read depth <span style="background: LightGoldenRodYellow">(Details : {LOINC code '82121-5' = 'Allelic read depth', given as 'Allelic read depth'})</span></p><p><b>value</b>: 117.0 reads per base pair<span style="background: LightGoldenRodYellow"> (Details: UCUM code {reads}/{base} = '{reads}/{base}')</span></p></blockquote></div> </text> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="69548-6"/> <display value="Genetic variant assessment"/> </coding> </code> <subject> <reference value="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648"/> </subject> <performer> <reference value="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17"/> </performer> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA9633-4"/> <display value="Present"/> </coding> </valueCodeableConcept> <method> <coding> <system value="http://loinc.org"/> <code value="LA26398-0"/> <display value="Sequencing"/> </coding> </method> <specimen> <identifier> <system value="http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID"/> <value value="UNKNOWN"/> </identifier> </specimen> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48002-0"/> <display value="Genomic source class"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA6684-0"/> <display value="Somatic"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48018-6"/> <display value="Gene studied [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.genenames.org/geneId"/> <code value="HGNC:7133"/> <display value="KMT2D"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="62374-4"/> <display value="Human reference sequence assembly version"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA14029-5"/> <display value="GRCh37"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48004-6"/> <display value="DNA change (c.HGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="c.7900_7901delCA"/> <display value="c.7900_7901delCA"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48019-4"/> <display value="DNA change type"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:0000159"/> <display value="deletion"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48005-3"/> <display value="Amino acid change (pHGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="p.Q2634Afs*20"/> <display value="p.Q2634Afs*20"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes"/> <code value="functional-annotation"/> <display value="functional-annotation"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:0000865"/> <display value="frameshift"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="51958-7"/> <display value="Transcript reference sequence [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/refseq"/> <code value="NM_003482.3"/> <display value="NM_003482.3"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69547-8"/> <display value="Genomic ref allele [ID]"/> </coding> </code> <valueString value="CTG"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81258-6"/> <display value="Sample VAF"/> </coding> </code> <valueQuantity> <value value="0.188"/> <unit value="relative frequency of a particular allele in the specimen"/> <system value="http://unitsofmeasure.org"/> <code value="1"/> </valueQuantity> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="82121-5"/> <display value="Allelic read depth"/> </coding> </code> <valueQuantity> <value value="117.0"/> <unit value="reads per base pair"/> <system value="http://unitsofmeasure.org"/> <code value="{reads}/{base}"/> </valueQuantity> </component> </Observation> </resource> <request> <method value="POST"/> <url value="Observation"/> </request> </entry> <entry> <fullUrl value="urn:uuid:58828523-8893-45fc-973b-16290366c5e5"/> <resource> <Observation> <meta> <profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/> </meta> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>meta</b>: </p><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style="background: LightGoldenRodYellow">(Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)</span></p><p><b>code</b>: Genetic variant assessment <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69548-6' = 'Genetic variant assessment', given as 'Genetic variant assessment'})</span></p><p><b>subject</b>: <a href="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648">urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648</a></p><p><b>performer</b>: <a href="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17">urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17</a></p><p><b>value</b>: Present <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})</span></p><p><b>method</b>: Sequencing <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA26398-0' = 'Sequencing', given as 'Sequencing'})</span></p><p><b>specimen</b>: </p><blockquote><p><b>component</b></p><p><b>code</b>: Genomic source class <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48002-0' = 'Genomic source class [Type]', given as 'Genomic source class'})</span></p><p><b>value</b>: Somatic <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA6684-0' = 'Somatic', given as 'Somatic'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Gene studied [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48018-6' = 'Gene studied [ID]', given as 'Gene studied [ID]'})</span></p><p><b>value</b>: PIK3CA <span style="background: LightGoldenRodYellow">(Details : {http://www.genenames.org/geneId code 'HGNC:8975' = 'HGNC:8975', given as 'PIK3CA'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Human reference sequence assembly version <span style="background: LightGoldenRodYellow">(Details : {LOINC code '62374-4' = 'Human reference sequence assembly version', given as 'Human reference sequence assembly version'})</span></p><p><b>value</b>: GRCh37 <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA14029-5' = 'GRCh37', given as 'GRCh37'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change (c.HGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48004-6' = 'DNA change (c.HGVS)', given as 'DNA change (c.HGVS)'})</span></p><p><b>value</b>: c.333G>T <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'c.333G>T' = 'c.333G>T', given as 'c.333G>T'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change type <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48019-4' = 'DNA Change Type', given as 'DNA change type'})</span></p><p><b>value</b>: substitution <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:1000002' = 'SO:1000002', given as 'substitution'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change (pHGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48005-3' = 'Amino acid change (pHGVS)', given as 'Amino acid change (pHGVS)'})</span></p><p><b>value</b>: p.K111N <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'p.K111N' = 'p.K111N', given as 'p.K111N'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: functional-annotation <span style="background: LightGoldenRodYellow">(Details : {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes code 'functional-annotation' = 'functional-annotation', given as 'functional-annotation'})</span></p><p><b>value</b>: missense_variant <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:0001583' = 'SO:0001583', given as 'missense_variant'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Transcript reference sequence [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '51958-7' = 'Transcript reference sequence [ID]', given as 'Transcript reference sequence [ID]'})</span></p><p><b>value</b>: NM_006218.3 <span style="background: LightGoldenRodYellow">(Details : {http://www.ncbi.nlm.nih.gov/refseq code 'NM_006218.3' = 'NM_006218.3', given as 'NM_006218.3'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic ref allele [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69547-8' = 'Genomic ref allele [ID]', given as 'Genomic ref allele [ID]'})</span></p><p><b>value</b>: G</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Sample VAF <span style="background: LightGoldenRodYellow">(Details : {LOINC code '81258-6' = 'Sample variant allelic frequency [NFr]', given as 'Sample VAF'})</span></p><p><b>value</b>: 0.1471 relative frequency of a particular allele in the specimen<span style="background: LightGoldenRodYellow"> (Details: UCUM code 1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Allelic read depth <span style="background: LightGoldenRodYellow">(Details : {LOINC code '82121-5' = 'Allelic read depth', given as 'Allelic read depth'})</span></p><p><b>value</b>: 68.0 reads per base pair<span style="background: LightGoldenRodYellow"> (Details: UCUM code {reads}/{base} = '{reads}/{base}')</span></p></blockquote></div> </text> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="69548-6"/> <display value="Genetic variant assessment"/> </coding> </code> <subject> <reference value="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648"/> </subject> <performer> <reference value="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17"/> </performer> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA9633-4"/> <display value="Present"/> </coding> </valueCodeableConcept> <method> <coding> <system value="http://loinc.org"/> <code value="LA26398-0"/> <display value="Sequencing"/> </coding> </method> <specimen> <identifier> <system value="http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID"/> <value value="UNKNOWN"/> </identifier> </specimen> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48002-0"/> <display value="Genomic source class"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA6684-0"/> <display value="Somatic"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48018-6"/> <display value="Gene studied [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.genenames.org/geneId"/> <code value="HGNC:8975"/> <display value="PIK3CA"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="62374-4"/> <display value="Human reference sequence assembly version"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA14029-5"/> <display value="GRCh37"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48004-6"/> <display value="DNA change (c.HGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="c.333G>T"/> <display value="c.333G>T"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48019-4"/> <display value="DNA change type"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:1000002"/> <display value="substitution"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48005-3"/> <display value="Amino acid change (pHGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="p.K111N"/> <display value="p.K111N"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes"/> <code value="functional-annotation"/> <display value="functional-annotation"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:0001583"/> <display value="missense_variant"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="51958-7"/> <display value="Transcript reference sequence [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/refseq"/> <code value="NM_006218.3"/> <display value="NM_006218.3"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69547-8"/> <display value="Genomic ref allele [ID]"/> </coding> </code> <valueString value="G"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81258-6"/> <display value="Sample VAF"/> </coding> </code> <valueQuantity> <value value="0.1471"/> <unit value="relative frequency of a particular allele in the specimen"/> <system value="http://unitsofmeasure.org"/> <code value="1"/> </valueQuantity> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="82121-5"/> <display value="Allelic read depth"/> </coding> </code> <valueQuantity> <value value="68.0"/> <unit value="reads per base pair"/> <system value="http://unitsofmeasure.org"/> <code value="{reads}/{base}"/> </valueQuantity> </component> </Observation> </resource> <request> <method value="POST"/> <url value="Observation"/> </request> </entry> <entry> <fullUrl value="urn:uuid:2c28b23f-3e9f-4c03-8c8f-0e76bc5dc9c2"/> <resource> <Observation> <meta> <profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/> </meta> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>meta</b>: </p><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style="background: LightGoldenRodYellow">(Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)</span></p><p><b>code</b>: Genetic variant assessment <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69548-6' = 'Genetic variant assessment', given as 'Genetic variant assessment'})</span></p><p><b>subject</b>: <a href="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648">urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648</a></p><p><b>performer</b>: <a href="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17">urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17</a></p><p><b>value</b>: Present <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})</span></p><p><b>method</b>: Sequencing <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA26398-0' = 'Sequencing', given as 'Sequencing'})</span></p><p><b>specimen</b>: </p><blockquote><p><b>component</b></p><p><b>code</b>: Genomic source class <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48002-0' = 'Genomic source class [Type]', given as 'Genomic source class'})</span></p><p><b>value</b>: Somatic <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA6684-0' = 'Somatic', given as 'Somatic'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Gene studied [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48018-6' = 'Gene studied [ID]', given as 'Gene studied [ID]'})</span></p><p><b>value</b>: IRS2 <span style="background: LightGoldenRodYellow">(Details : {http://www.genenames.org/geneId code 'HGNC:6126' = 'HGNC:6126', given as 'IRS2'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Human reference sequence assembly version <span style="background: LightGoldenRodYellow">(Details : {LOINC code '62374-4' = 'Human reference sequence assembly version', given as 'Human reference sequence assembly version'})</span></p><p><b>value</b>: GRCh37 <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA14029-5' = 'GRCh37', given as 'GRCh37'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change (c.HGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48004-6' = 'DNA change (c.HGVS)', given as 'DNA change (c.HGVS)'})</span></p><p><b>value</b>: c.3960C>T <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'c.3960C>T' = 'c.3960C>T', given as 'c.3960C>T'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change type <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48019-4' = 'DNA Change Type', given as 'DNA change type'})</span></p><p><b>value</b>: substitution <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:1000002' = 'SO:1000002', given as 'substitution'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change (pHGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48005-3' = 'Amino acid change (pHGVS)', given as 'Amino acid change (pHGVS)'})</span></p><p><b>value</b>: p.= <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'p.=' = 'p.=', given as 'p.='})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: functional-annotation <span style="background: LightGoldenRodYellow">(Details : {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes code 'functional-annotation' = 'functional-annotation', given as 'functional-annotation'})</span></p><p><b>value</b>: synonymous_variant <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:0001819' = 'SO:0001819', given as 'synonymous_variant'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Transcript reference sequence [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '51958-7' = 'Transcript reference sequence [ID]', given as 'Transcript reference sequence [ID]'})</span></p><p><b>value</b>: NM_003749.2 <span style="background: LightGoldenRodYellow">(Details : {http://www.ncbi.nlm.nih.gov/refseq code 'NM_003749.2' = 'NM_003749.2', given as 'NM_003749.2'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic ref allele [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69547-8' = 'Genomic ref allele [ID]', given as 'Genomic ref allele [ID]'})</span></p><p><b>value</b>: G</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Sample VAF <span style="background: LightGoldenRodYellow">(Details : {LOINC code '81258-6' = 'Sample variant allelic frequency [NFr]', given as 'Sample VAF'})</span></p><p><b>value</b>: 0.1343 relative frequency of a particular allele in the specimen<span style="background: LightGoldenRodYellow"> (Details: UCUM code 1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Allelic read depth <span style="background: LightGoldenRodYellow">(Details : {LOINC code '82121-5' = 'Allelic read depth', given as 'Allelic read depth'})</span></p><p><b>value</b>: 134.0 reads per base pair<span style="background: LightGoldenRodYellow"> (Details: UCUM code {reads}/{base} = '{reads}/{base}')</span></p></blockquote></div> </text> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="69548-6"/> <display value="Genetic variant assessment"/> </coding> </code> <subject> <reference value="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648"/> </subject> <performer> <reference value="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17"/> </performer> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA9633-4"/> <display value="Present"/> </coding> </valueCodeableConcept> <method> <coding> <system value="http://loinc.org"/> <code value="LA26398-0"/> <display value="Sequencing"/> </coding> </method> <specimen> <identifier> <system value="http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID"/> <value value="UNKNOWN"/> </identifier> </specimen> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48002-0"/> <display value="Genomic source class"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA6684-0"/> <display value="Somatic"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48018-6"/> <display value="Gene studied [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.genenames.org/geneId"/> <code value="HGNC:6126"/> <display value="IRS2"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="62374-4"/> <display value="Human reference sequence assembly version"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA14029-5"/> <display value="GRCh37"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48004-6"/> <display value="DNA change (c.HGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="c.3960C>T"/> <display value="c.3960C>T"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48019-4"/> <display value="DNA change type"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:1000002"/> <display value="substitution"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48005-3"/> <display value="Amino acid change (pHGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="p.="/> <display value="p.="/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes"/> <code value="functional-annotation"/> <display value="functional-annotation"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:0001819"/> <display value="synonymous_variant"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="51958-7"/> <display value="Transcript reference sequence [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/refseq"/> <code value="NM_003749.2"/> <display value="NM_003749.2"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69547-8"/> <display value="Genomic ref allele [ID]"/> </coding> </code> <valueString value="G"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81258-6"/> <display value="Sample VAF"/> </coding> </code> <valueQuantity> <value value="0.1343"/> <unit value="relative frequency of a particular allele in the specimen"/> <system value="http://unitsofmeasure.org"/> <code value="1"/> </valueQuantity> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="82121-5"/> <display value="Allelic read depth"/> </coding> </code> <valueQuantity> <value value="134.0"/> <unit value="reads per base pair"/> <system value="http://unitsofmeasure.org"/> <code value="{reads}/{base}"/> </valueQuantity> </component> </Observation> </resource> <request> <method value="POST"/> <url value="Observation"/> </request> </entry> <entry> <fullUrl value="urn:uuid:41bebbe5-e06f-4867-aa22-7c06db69dbd1"/> <resource> <Observation> <meta> <profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/> </meta> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>meta</b>: </p><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style="background: LightGoldenRodYellow">(Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)</span></p><p><b>code</b>: Genetic variant assessment <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69548-6' = 'Genetic variant assessment', given as 'Genetic variant assessment'})</span></p><p><b>subject</b>: <a href="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648">urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648</a></p><p><b>performer</b>: <a href="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17">urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17</a></p><p><b>value</b>: Present <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})</span></p><p><b>method</b>: Sequencing <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA26398-0' = 'Sequencing', given as 'Sequencing'})</span></p><p><b>specimen</b>: </p><blockquote><p><b>component</b></p><p><b>code</b>: Genomic source class <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48002-0' = 'Genomic source class [Type]', given as 'Genomic source class'})</span></p><p><b>value</b>: Somatic <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA6684-0' = 'Somatic', given as 'Somatic'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Gene studied [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48018-6' = 'Gene studied [ID]', given as 'Gene studied [ID]'})</span></p><p><b>value</b>: CDKN2A <span style="background: LightGoldenRodYellow">(Details : {http://www.genenames.org/geneId code 'HGNC:1787' = 'HGNC:1787', given as 'CDKN2A'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Human reference sequence assembly version <span style="background: LightGoldenRodYellow">(Details : {LOINC code '62374-4' = 'Human reference sequence assembly version', given as 'Human reference sequence assembly version'})</span></p><p><b>value</b>: GRCh37 <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA14029-5' = 'GRCh37', given as 'GRCh37'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change (c.HGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48004-6' = 'DNA change (c.HGVS)', given as 'DNA change (c.HGVS)'})</span></p><p><b>value</b>: c.9_32del <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'c.9_32del' = 'c.9_32del', given as 'c.9_32del'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change type <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48019-4' = 'DNA Change Type', given as 'DNA change type'})</span></p><p><b>value</b>: deletion <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:0000159' = 'SO:0000159', given as 'deletion'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change (pHGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48005-3' = 'Amino acid change (pHGVS)', given as 'Amino acid change (pHGVS)'})</span></p><p><b>value</b>: p.A4_P11del <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'p.A4_P11del' = 'p.A4_P11del', given as 'p.A4_P11del'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: functional-annotation <span style="background: LightGoldenRodYellow">(Details : {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes code 'functional-annotation' = 'functional-annotation', given as 'functional-annotation'})</span></p><p><b>value</b>: inframe_variant <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:0001650' = 'SO:0001650', given as 'inframe_variant'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Transcript reference sequence [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '51958-7' = 'Transcript reference sequence [ID]', given as 'Transcript reference sequence [ID]'})</span></p><p><b>value</b>: NM_000077.4 <span style="background: LightGoldenRodYellow">(Details : {http://www.ncbi.nlm.nih.gov/refseq code 'NM_000077.4' = 'NM_000077.4', given as 'NM_000077.4'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic ref allele [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69547-8' = 'Genomic ref allele [ID]', given as 'Genomic ref allele [ID]'})</span></p><p><b>value</b>: AGGCTCCATGCTGCTCCCCGCCGCC</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Sample VAF <span style="background: LightGoldenRodYellow">(Details : {LOINC code '81258-6' = 'Sample variant allelic frequency [NFr]', given as 'Sample VAF'})</span></p><p><b>value</b>: 0.0536 relative frequency of a particular allele in the specimen<span style="background: LightGoldenRodYellow"> (Details: UCUM code 1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Allelic read depth <span style="background: LightGoldenRodYellow">(Details : {LOINC code '82121-5' = 'Allelic read depth', given as 'Allelic read depth'})</span></p><p><b>value</b>: 112.0 reads per base pair<span style="background: LightGoldenRodYellow"> (Details: UCUM code {reads}/{base} = '{reads}/{base}')</span></p></blockquote></div> </text> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="69548-6"/> <display value="Genetic variant assessment"/> </coding> </code> <subject> <reference value="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648"/> </subject> <performer> <reference value="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17"/> </performer> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA9633-4"/> <display value="Present"/> </coding> </valueCodeableConcept> <method> <coding> <system value="http://loinc.org"/> <code value="LA26398-0"/> <display value="Sequencing"/> </coding> </method> <specimen> <identifier> <system value="http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID"/> <value value="UNKNOWN"/> </identifier> </specimen> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48002-0"/> <display value="Genomic source class"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA6684-0"/> <display value="Somatic"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48018-6"/> <display value="Gene studied [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.genenames.org/geneId"/> <code value="HGNC:1787"/> <display value="CDKN2A"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="62374-4"/> <display value="Human reference sequence assembly version"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA14029-5"/> <display value="GRCh37"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48004-6"/> <display value="DNA change (c.HGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="c.9_32del"/> <display value="c.9_32del"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48019-4"/> <display value="DNA change type"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:0000159"/> <display value="deletion"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48005-3"/> <display value="Amino acid change (pHGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="p.A4_P11del"/> <display value="p.A4_P11del"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes"/> <code value="functional-annotation"/> <display value="functional-annotation"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:0001650"/> <display value="inframe_variant"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="51958-7"/> <display value="Transcript reference sequence [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/refseq"/> <code value="NM_000077.4"/> <display value="NM_000077.4"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69547-8"/> <display value="Genomic ref allele [ID]"/> </coding> </code> <valueString value="AGGCTCCATGCTGCTCCCCGCCGCC"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81258-6"/> <display value="Sample VAF"/> </coding> </code> <valueQuantity> <value value="0.0536"/> <unit value="relative frequency of a particular allele in the specimen"/> <system value="http://unitsofmeasure.org"/> <code value="1"/> </valueQuantity> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="82121-5"/> <display value="Allelic read depth"/> </coding> </code> <valueQuantity> <value value="112.0"/> <unit value="reads per base pair"/> <system value="http://unitsofmeasure.org"/> <code value="{reads}/{base}"/> </valueQuantity> </component> </Observation> </resource> <request> <method value="POST"/> <url value="Observation"/> </request> </entry> <entry> <fullUrl value="urn:uuid:1642f190-e2c6-4999-8040-b9b2a70618bf"/> <resource> <Observation> <meta> <profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/> </meta> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>meta</b>: </p><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style="background: LightGoldenRodYellow">(Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)</span></p><p><b>code</b>: Genetic variant assessment <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69548-6' = 'Genetic variant assessment', given as 'Genetic variant assessment'})</span></p><p><b>subject</b>: <a href="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648">urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648</a></p><p><b>performer</b>: <a href="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17">urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17</a></p><p><b>value</b>: Present <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})</span></p><p><b>method</b>: Sequencing <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA26398-0' = 'Sequencing', given as 'Sequencing'})</span></p><p><b>specimen</b>: </p><blockquote><p><b>component</b></p><p><b>code</b>: Genomic source class <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48002-0' = 'Genomic source class [Type]', given as 'Genomic source class'})</span></p><p><b>value</b>: Somatic <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA6684-0' = 'Somatic', given as 'Somatic'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Gene studied [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48018-6' = 'Gene studied [ID]', given as 'Gene studied [ID]'})</span></p><p><b>value</b>: RECQL4 <span style="background: LightGoldenRodYellow">(Details : {http://www.genenames.org/geneId code 'HGNC:9949' = 'HGNC:9949', given as 'RECQL4'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Human reference sequence assembly version <span style="background: LightGoldenRodYellow">(Details : {LOINC code '62374-4' = 'Human reference sequence assembly version', given as 'Human reference sequence assembly version'})</span></p><p><b>value</b>: GRCh37 <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA14029-5' = 'GRCh37', given as 'GRCh37'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change (c.HGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48004-6' = 'DNA change (c.HGVS)', given as 'DNA change (c.HGVS)'})</span></p><p><b>value</b>: c.2086C>T <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'c.2086C>T' = 'c.2086C>T', given as 'c.2086C>T'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change type <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48019-4' = 'DNA Change Type', given as 'DNA change type'})</span></p><p><b>value</b>: substitution <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:1000002' = 'SO:1000002', given as 'substitution'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change (pHGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48005-3' = 'Amino acid change (pHGVS)', given as 'Amino acid change (pHGVS)'})</span></p><p><b>value</b>: p.R696C <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'p.R696C' = 'p.R696C', given as 'p.R696C'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: functional-annotation <span style="background: LightGoldenRodYellow">(Details : {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes code 'functional-annotation' = 'functional-annotation', given as 'functional-annotation'})</span></p><p><b>value</b>: missense_variant <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:0001583' = 'SO:0001583', given as 'missense_variant'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Transcript reference sequence [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '51958-7' = 'Transcript reference sequence [ID]', given as 'Transcript reference sequence [ID]'})</span></p><p><b>value</b>: NM_004260.3 <span style="background: LightGoldenRodYellow">(Details : {http://www.ncbi.nlm.nih.gov/refseq code 'NM_004260.3' = 'NM_004260.3', given as 'NM_004260.3'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic ref allele [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69547-8' = 'Genomic ref allele [ID]', given as 'Genomic ref allele [ID]'})</span></p><p><b>value</b>: G</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Sample VAF <span style="background: LightGoldenRodYellow">(Details : {LOINC code '81258-6' = 'Sample variant allelic frequency [NFr]', given as 'Sample VAF'})</span></p><p><b>value</b>: 0.2568 relative frequency of a particular allele in the specimen<span style="background: LightGoldenRodYellow"> (Details: UCUM code 1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Allelic read depth <span style="background: LightGoldenRodYellow">(Details : {LOINC code '82121-5' = 'Allelic read depth', given as 'Allelic read depth'})</span></p><p><b>value</b>: 148.0 reads per base pair<span style="background: LightGoldenRodYellow"> (Details: UCUM code {reads}/{base} = '{reads}/{base}')</span></p></blockquote></div> </text> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="69548-6"/> <display value="Genetic variant assessment"/> </coding> </code> <subject> <reference value="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648"/> </subject> <performer> <reference value="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17"/> </performer> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA9633-4"/> <display value="Present"/> </coding> </valueCodeableConcept> <method> <coding> <system value="http://loinc.org"/> <code value="LA26398-0"/> <display value="Sequencing"/> </coding> </method> <specimen> <identifier> <system value="http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID"/> <value value="UNKNOWN"/> </identifier> </specimen> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48002-0"/> <display value="Genomic source class"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA6684-0"/> <display value="Somatic"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48018-6"/> <display value="Gene studied [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.genenames.org/geneId"/> <code value="HGNC:9949"/> <display value="RECQL4"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="62374-4"/> <display value="Human reference sequence assembly version"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA14029-5"/> <display value="GRCh37"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48004-6"/> <display value="DNA change (c.HGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="c.2086C>T"/> <display value="c.2086C>T"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48019-4"/> <display value="DNA change type"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:1000002"/> <display value="substitution"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48005-3"/> <display value="Amino acid change (pHGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="p.R696C"/> <display value="p.R696C"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes"/> <code value="functional-annotation"/> <display value="functional-annotation"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:0001583"/> <display value="missense_variant"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="51958-7"/> <display value="Transcript reference sequence [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/refseq"/> <code value="NM_004260.3"/> <display value="NM_004260.3"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69547-8"/> <display value="Genomic ref allele [ID]"/> </coding> </code> <valueString value="G"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81258-6"/> <display value="Sample VAF"/> </coding> </code> <valueQuantity> <value value="0.2568"/> <unit value="relative frequency of a particular allele in the specimen"/> <system value="http://unitsofmeasure.org"/> <code value="1"/> </valueQuantity> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="82121-5"/> <display value="Allelic read depth"/> </coding> </code> <valueQuantity> <value value="148.0"/> <unit value="reads per base pair"/> <system value="http://unitsofmeasure.org"/> <code value="{reads}/{base}"/> </valueQuantity> </component> </Observation> </resource> <request> <method value="POST"/> <url value="Observation"/> </request> </entry> <entry> <fullUrl value="urn:uuid:c3587931-242f-4129-93f9-be24500c8f29"/> <resource> <Observation> <meta> <profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/> </meta> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>meta</b>: </p><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style="background: LightGoldenRodYellow">(Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)</span></p><p><b>code</b>: Genetic variant assessment <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69548-6' = 'Genetic variant assessment', given as 'Genetic variant assessment'})</span></p><p><b>subject</b>: <a href="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648">urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648</a></p><p><b>performer</b>: <a href="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17">urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17</a></p><p><b>value</b>: Present <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})</span></p><p><b>method</b>: Sequencing <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA26398-0' = 'Sequencing', given as 'Sequencing'})</span></p><p><b>specimen</b>: </p><blockquote><p><b>component</b></p><p><b>code</b>: Genomic source class <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48002-0' = 'Genomic source class [Type]', given as 'Genomic source class'})</span></p><p><b>value</b>: Somatic <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA6684-0' = 'Somatic', given as 'Somatic'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Gene studied [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48018-6' = 'Gene studied [ID]', given as 'Gene studied [ID]'})</span></p><p><b>value</b>: RYR1 <span style="background: LightGoldenRodYellow">(Details : {http://www.genenames.org/geneId code 'HGNC:10483' = 'HGNC:10483', given as 'RYR1'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Human reference sequence assembly version <span style="background: LightGoldenRodYellow">(Details : {LOINC code '62374-4' = 'Human reference sequence assembly version', given as 'Human reference sequence assembly version'})</span></p><p><b>value</b>: GRCh37 <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA14029-5' = 'GRCh37', given as 'GRCh37'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change (c.HGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48004-6' = 'DNA change (c.HGVS)', given as 'DNA change (c.HGVS)'})</span></p><p><b>value</b>: c.4964G>A <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'c.4964G>A' = 'c.4964G>A', given as 'c.4964G>A'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change type <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48019-4' = 'DNA Change Type', given as 'DNA change type'})</span></p><p><b>value</b>: substitution <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:1000002' = 'SO:1000002', given as 'substitution'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change (pHGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48005-3' = 'Amino acid change (pHGVS)', given as 'Amino acid change (pHGVS)'})</span></p><p><b>value</b>: p.R1655H <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'p.R1655H' = 'p.R1655H', given as 'p.R1655H'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: functional-annotation <span style="background: LightGoldenRodYellow">(Details : {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes code 'functional-annotation' = 'functional-annotation', given as 'functional-annotation'})</span></p><p><b>value</b>: missense_variant <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:0001583' = 'SO:0001583', given as 'missense_variant'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Transcript reference sequence [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '51958-7' = 'Transcript reference sequence [ID]', given as 'Transcript reference sequence [ID]'})</span></p><p><b>value</b>: NM_000540.2 <span style="background: LightGoldenRodYellow">(Details : {http://www.ncbi.nlm.nih.gov/refseq code 'NM_000540.2' = 'NM_000540.2', given as 'NM_000540.2'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic ref allele [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69547-8' = 'Genomic ref allele [ID]', given as 'Genomic ref allele [ID]'})</span></p><p><b>value</b>: G</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Sample VAF <span style="background: LightGoldenRodYellow">(Details : {LOINC code '81258-6' = 'Sample variant allelic frequency [NFr]', given as 'Sample VAF'})</span></p><p><b>value</b>: 0.2151 relative frequency of a particular allele in the specimen<span style="background: LightGoldenRodYellow"> (Details: UCUM code 1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Allelic read depth <span style="background: LightGoldenRodYellow">(Details : {LOINC code '82121-5' = 'Allelic read depth', given as 'Allelic read depth'})</span></p><p><b>value</b>: 93.0 reads per base pair<span style="background: LightGoldenRodYellow"> (Details: UCUM code {reads}/{base} = '{reads}/{base}')</span></p></blockquote></div> </text> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="69548-6"/> <display value="Genetic variant assessment"/> </coding> </code> <subject> <reference value="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648"/> </subject> <performer> <reference value="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17"/> </performer> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA9633-4"/> <display value="Present"/> </coding> </valueCodeableConcept> <method> <coding> <system value="http://loinc.org"/> <code value="LA26398-0"/> <display value="Sequencing"/> </coding> </method> <specimen> <identifier> <system value="http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID"/> <value value="UNKNOWN"/> </identifier> </specimen> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48002-0"/> <display value="Genomic source class"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA6684-0"/> <display value="Somatic"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48018-6"/> <display value="Gene studied [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.genenames.org/geneId"/> <code value="HGNC:10483"/> <display value="RYR1"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="62374-4"/> <display value="Human reference sequence assembly version"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA14029-5"/> <display value="GRCh37"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48004-6"/> <display value="DNA change (c.HGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="c.4964G>A"/> <display value="c.4964G>A"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48019-4"/> <display value="DNA change type"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:1000002"/> <display value="substitution"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48005-3"/> <display value="Amino acid change (pHGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="p.R1655H"/> <display value="p.R1655H"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes"/> <code value="functional-annotation"/> <display value="functional-annotation"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:0001583"/> <display value="missense_variant"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="51958-7"/> <display value="Transcript reference sequence [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/refseq"/> <code value="NM_000540.2"/> <display value="NM_000540.2"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69547-8"/> <display value="Genomic ref allele [ID]"/> </coding> </code> <valueString value="G"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81258-6"/> <display value="Sample VAF"/> </coding> </code> <valueQuantity> <value value="0.2151"/> <unit value="relative frequency of a particular allele in the specimen"/> <system value="http://unitsofmeasure.org"/> <code value="1"/> </valueQuantity> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="82121-5"/> <display value="Allelic read depth"/> </coding> </code> <valueQuantity> <value value="93.0"/> <unit value="reads per base pair"/> <system value="http://unitsofmeasure.org"/> <code value="{reads}/{base}"/> </valueQuantity> </component> </Observation> </resource> <request> <method value="POST"/> <url value="Observation"/> </request> </entry> <entry> <fullUrl value="urn:uuid:41695fc0-1fd5-4cc8-95e6-82b2848a5cb6"/> <resource> <Observation> <meta> <profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/> </meta> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>meta</b>: </p><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style="background: LightGoldenRodYellow">(Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)</span></p><p><b>code</b>: Genetic variant assessment <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69548-6' = 'Genetic variant assessment', given as 'Genetic variant assessment'})</span></p><p><b>subject</b>: <a href="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648">urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648</a></p><p><b>performer</b>: <a href="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17">urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17</a></p><p><b>value</b>: Present <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})</span></p><p><b>method</b>: Sequencing <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA26398-0' = 'Sequencing', given as 'Sequencing'})</span></p><p><b>specimen</b>: </p><blockquote><p><b>component</b></p><p><b>code</b>: Genomic source class <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48002-0' = 'Genomic source class [Type]', given as 'Genomic source class'})</span></p><p><b>value</b>: Somatic <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA6684-0' = 'Somatic', given as 'Somatic'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Gene studied [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48018-6' = 'Gene studied [ID]', given as 'Gene studied [ID]'})</span></p><p><b>value</b>: SACS <span style="background: LightGoldenRodYellow">(Details : {http://www.genenames.org/geneId code 'HGNC:10519' = 'HGNC:10519', given as 'SACS'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Human reference sequence assembly version <span style="background: LightGoldenRodYellow">(Details : {LOINC code '62374-4' = 'Human reference sequence assembly version', given as 'Human reference sequence assembly version'})</span></p><p><b>value</b>: GRCh37 <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA14029-5' = 'GRCh37', given as 'GRCh37'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change (c.HGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48004-6' = 'DNA change (c.HGVS)', given as 'DNA change (c.HGVS)'})</span></p><p><b>value</b>: c.12118G>A <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'c.12118G>A' = 'c.12118G>A', given as 'c.12118G>A'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change type <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48019-4' = 'DNA Change Type', given as 'DNA change type'})</span></p><p><b>value</b>: substitution <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:1000002' = 'SO:1000002', given as 'substitution'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change (pHGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48005-3' = 'Amino acid change (pHGVS)', given as 'Amino acid change (pHGVS)'})</span></p><p><b>value</b>: p.A4040T <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'p.A4040T' = 'p.A4040T', given as 'p.A4040T'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: functional-annotation <span style="background: LightGoldenRodYellow">(Details : {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes code 'functional-annotation' = 'functional-annotation', given as 'functional-annotation'})</span></p><p><b>value</b>: missense_variant <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:0001583' = 'SO:0001583', given as 'missense_variant'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Transcript reference sequence [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '51958-7' = 'Transcript reference sequence [ID]', given as 'Transcript reference sequence [ID]'})</span></p><p><b>value</b>: NM_014363.5 <span style="background: LightGoldenRodYellow">(Details : {http://www.ncbi.nlm.nih.gov/refseq code 'NM_014363.5' = 'NM_014363.5', given as 'NM_014363.5'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic ref allele [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69547-8' = 'Genomic ref allele [ID]', given as 'Genomic ref allele [ID]'})</span></p><p><b>value</b>: C</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Sample VAF <span style="background: LightGoldenRodYellow">(Details : {LOINC code '81258-6' = 'Sample variant allelic frequency [NFr]', given as 'Sample VAF'})</span></p><p><b>value</b>: 0.3333 relative frequency of a particular allele in the specimen<span style="background: LightGoldenRodYellow"> (Details: UCUM code 1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Allelic read depth <span style="background: LightGoldenRodYellow">(Details : {LOINC code '82121-5' = 'Allelic read depth', given as 'Allelic read depth'})</span></p><p><b>value</b>: 60.0 reads per base pair<span style="background: LightGoldenRodYellow"> (Details: UCUM code {reads}/{base} = '{reads}/{base}')</span></p></blockquote></div> </text> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="69548-6"/> <display value="Genetic variant assessment"/> </coding> </code> <subject> <reference value="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648"/> </subject> <performer> <reference value="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17"/> </performer> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA9633-4"/> <display value="Present"/> </coding> </valueCodeableConcept> <method> <coding> <system value="http://loinc.org"/> <code value="LA26398-0"/> <display value="Sequencing"/> </coding> </method> <specimen> <identifier> <system value="http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID"/> <value value="UNKNOWN"/> </identifier> </specimen> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48002-0"/> <display value="Genomic source class"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA6684-0"/> <display value="Somatic"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48018-6"/> <display value="Gene studied [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.genenames.org/geneId"/> <code value="HGNC:10519"/> <display value="SACS"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="62374-4"/> <display value="Human reference sequence assembly version"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA14029-5"/> <display value="GRCh37"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48004-6"/> <display value="DNA change (c.HGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="c.12118G>A"/> <display value="c.12118G>A"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48019-4"/> <display value="DNA change type"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:1000002"/> <display value="substitution"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48005-3"/> <display value="Amino acid change (pHGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="p.A4040T"/> <display value="p.A4040T"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes"/> <code value="functional-annotation"/> <display value="functional-annotation"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:0001583"/> <display value="missense_variant"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="51958-7"/> <display value="Transcript reference sequence [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/refseq"/> <code value="NM_014363.5"/> <display value="NM_014363.5"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69547-8"/> <display value="Genomic ref allele [ID]"/> </coding> </code> <valueString value="C"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81258-6"/> <display value="Sample VAF"/> </coding> </code> <valueQuantity> <value value="0.3333"/> <unit value="relative frequency of a particular allele in the specimen"/> <system value="http://unitsofmeasure.org"/> <code value="1"/> </valueQuantity> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="82121-5"/> <display value="Allelic read depth"/> </coding> </code> <valueQuantity> <value value="60.0"/> <unit value="reads per base pair"/> <system value="http://unitsofmeasure.org"/> <code value="{reads}/{base}"/> </valueQuantity> </component> </Observation> </resource> <request> <method value="POST"/> <url value="Observation"/> </request> </entry> <entry> <fullUrl value="urn:uuid:58eb14f6-4059-4168-86a9-155ae61d30e2"/> <resource> <Observation> <meta> <profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/> </meta> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>meta</b>: </p><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style="background: LightGoldenRodYellow">(Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)</span></p><p><b>code</b>: Genetic variant assessment <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69548-6' = 'Genetic variant assessment', given as 'Genetic variant assessment'})</span></p><p><b>subject</b>: <a href="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648">urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648</a></p><p><b>performer</b>: <a href="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17">urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17</a></p><p><b>value</b>: Present <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})</span></p><p><b>method</b>: Sequencing <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA26398-0' = 'Sequencing', given as 'Sequencing'})</span></p><p><b>specimen</b>: </p><blockquote><p><b>component</b></p><p><b>code</b>: Genomic source class <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48002-0' = 'Genomic source class [Type]', given as 'Genomic source class'})</span></p><p><b>value</b>: Somatic <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA6684-0' = 'Somatic', given as 'Somatic'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Gene studied [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48018-6' = 'Gene studied [ID]', given as 'Gene studied [ID]'})</span></p><p><b>value</b>: SLIT2 <span style="background: LightGoldenRodYellow">(Details : {http://www.genenames.org/geneId code 'HGNC:11086' = 'HGNC:11086', given as 'SLIT2'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Human reference sequence assembly version <span style="background: LightGoldenRodYellow">(Details : {LOINC code '62374-4' = 'Human reference sequence assembly version', given as 'Human reference sequence assembly version'})</span></p><p><b>value</b>: GRCh37 <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA14029-5' = 'GRCh37', given as 'GRCh37'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change (c.HGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48004-6' = 'DNA change (c.HGVS)', given as 'DNA change (c.HGVS)'})</span></p><p><b>value</b>: c.1290C>A <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'c.1290C>A' = 'c.1290C>A', given as 'c.1290C>A'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change type <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48019-4' = 'DNA Change Type', given as 'DNA change type'})</span></p><p><b>value</b>: substitution <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:1000002' = 'SO:1000002', given as 'substitution'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change (pHGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48005-3' = 'Amino acid change (pHGVS)', given as 'Amino acid change (pHGVS)'})</span></p><p><b>value</b>: p.N430K <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'p.N430K' = 'p.N430K', given as 'p.N430K'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: functional-annotation <span style="background: LightGoldenRodYellow">(Details : {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes code 'functional-annotation' = 'functional-annotation', given as 'functional-annotation'})</span></p><p><b>value</b>: missense_variant <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:0001583' = 'SO:0001583', given as 'missense_variant'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Transcript reference sequence [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '51958-7' = 'Transcript reference sequence [ID]', given as 'Transcript reference sequence [ID]'})</span></p><p><b>value</b>: NM_004787.3 <span style="background: LightGoldenRodYellow">(Details : {http://www.ncbi.nlm.nih.gov/refseq code 'NM_004787.3' = 'NM_004787.3', given as 'NM_004787.3'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic ref allele [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69547-8' = 'Genomic ref allele [ID]', given as 'Genomic ref allele [ID]'})</span></p><p><b>value</b>: C</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Sample VAF <span style="background: LightGoldenRodYellow">(Details : {LOINC code '81258-6' = 'Sample variant allelic frequency [NFr]', given as 'Sample VAF'})</span></p><p><b>value</b>: 0.2642 relative frequency of a particular allele in the specimen<span style="background: LightGoldenRodYellow"> (Details: UCUM code 1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Allelic read depth <span style="background: LightGoldenRodYellow">(Details : {LOINC code '82121-5' = 'Allelic read depth', given as 'Allelic read depth'})</span></p><p><b>value</b>: 53.0 reads per base pair<span style="background: LightGoldenRodYellow"> (Details: UCUM code {reads}/{base} = '{reads}/{base}')</span></p></blockquote></div> </text> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="69548-6"/> <display value="Genetic variant assessment"/> </coding> </code> <subject> <reference value="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648"/> </subject> <performer> <reference value="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17"/> </performer> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA9633-4"/> <display value="Present"/> </coding> </valueCodeableConcept> <method> <coding> <system value="http://loinc.org"/> <code value="LA26398-0"/> <display value="Sequencing"/> </coding> </method> <specimen> <identifier> <system value="http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID"/> <value value="UNKNOWN"/> </identifier> </specimen> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48002-0"/> <display value="Genomic source class"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA6684-0"/> <display value="Somatic"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48018-6"/> <display value="Gene studied [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.genenames.org/geneId"/> <code value="HGNC:11086"/> <display value="SLIT2"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="62374-4"/> <display value="Human reference sequence assembly version"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA14029-5"/> <display value="GRCh37"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48004-6"/> <display value="DNA change (c.HGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="c.1290C>A"/> <display value="c.1290C>A"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48019-4"/> <display value="DNA change type"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:1000002"/> <display value="substitution"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48005-3"/> <display value="Amino acid change (pHGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="p.N430K"/> <display value="p.N430K"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes"/> <code value="functional-annotation"/> <display value="functional-annotation"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:0001583"/> <display value="missense_variant"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="51958-7"/> <display value="Transcript reference sequence [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/refseq"/> <code value="NM_004787.3"/> <display value="NM_004787.3"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69547-8"/> <display value="Genomic ref allele [ID]"/> </coding> </code> <valueString value="C"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81258-6"/> <display value="Sample VAF"/> </coding> </code> <valueQuantity> <value value="0.2642"/> <unit value="relative frequency of a particular allele in the specimen"/> <system value="http://unitsofmeasure.org"/> <code value="1"/> </valueQuantity> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="82121-5"/> <display value="Allelic read depth"/> </coding> </code> <valueQuantity> <value value="53.0"/> <unit value="reads per base pair"/> <system value="http://unitsofmeasure.org"/> <code value="{reads}/{base}"/> </valueQuantity> </component> </Observation> </resource> <request> <method value="POST"/> <url value="Observation"/> </request> </entry> <entry> <fullUrl value="urn:uuid:1a71e80f-b044-4a91-80e1-eadbe5a53dca"/> <resource> <Observation> <meta> <profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/> </meta> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>meta</b>: </p><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style="background: LightGoldenRodYellow">(Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)</span></p><p><b>code</b>: Genetic variant assessment <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69548-6' = 'Genetic variant assessment', given as 'Genetic variant assessment'})</span></p><p><b>subject</b>: <a href="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648">urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648</a></p><p><b>performer</b>: <a href="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17">urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17</a></p><p><b>value</b>: Present <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})</span></p><p><b>method</b>: Sequencing <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA26398-0' = 'Sequencing', given as 'Sequencing'})</span></p><p><b>specimen</b>: </p><blockquote><p><b>component</b></p><p><b>code</b>: Genomic source class <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48002-0' = 'Genomic source class [Type]', given as 'Genomic source class'})</span></p><p><b>value</b>: Somatic <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA6684-0' = 'Somatic', given as 'Somatic'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Gene studied [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48018-6' = 'Gene studied [ID]', given as 'Gene studied [ID]'})</span></p><p><b>value</b>: SMARCA4 <span style="background: LightGoldenRodYellow">(Details : {http://www.genenames.org/geneId code 'HGNC:11100' = 'HGNC:11100', given as 'SMARCA4'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Human reference sequence assembly version <span style="background: LightGoldenRodYellow">(Details : {LOINC code '62374-4' = 'Human reference sequence assembly version', given as 'Human reference sequence assembly version'})</span></p><p><b>value</b>: GRCh37 <span style="background: LightGoldenRodYellow">(Details : {LOINC code 'LA14029-5' = 'GRCh37', given as 'GRCh37'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change (c.HGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48004-6' = 'DNA change (c.HGVS)', given as 'DNA change (c.HGVS)'})</span></p><p><b>value</b>: c.2372C>T <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'c.2372C>T' = 'c.2372C>T', given as 'c.2372C>T'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change type <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48019-4' = 'DNA Change Type', given as 'DNA change type'})</span></p><p><b>value</b>: substitution <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:1000002' = 'SO:1000002', given as 'substitution'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change (pHGVS) <span style="background: LightGoldenRodYellow">(Details : {LOINC code '48005-3' = 'Amino acid change (pHGVS)', given as 'Amino acid change (pHGVS)'})</span></p><p><b>value</b>: p.A791V <span style="background: LightGoldenRodYellow">(Details : {http://varnomen.hgvs.org code 'p.A791V' = 'p.A791V', given as 'p.A791V'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: functional-annotation <span style="background: LightGoldenRodYellow">(Details : {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes code 'functional-annotation' = 'functional-annotation', given as 'functional-annotation'})</span></p><p><b>value</b>: missense_variant <span style="background: LightGoldenRodYellow">(Details : {http://www.sequenceontology.org code 'SO:0001583' = 'SO:0001583', given as 'missense_variant'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Transcript reference sequence [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '51958-7' = 'Transcript reference sequence [ID]', given as 'Transcript reference sequence [ID]'})</span></p><p><b>value</b>: NM_001128849.1 <span style="background: LightGoldenRodYellow">(Details : {http://www.ncbi.nlm.nih.gov/refseq code 'NM_001128849.1' = 'NM_001128849.1', given as 'NM_001128849.1'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic ref allele [ID] <span style="background: LightGoldenRodYellow">(Details : {LOINC code '69547-8' = 'Genomic ref allele [ID]', given as 'Genomic ref allele [ID]'})</span></p><p><b>value</b>: C</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Sample VAF <span style="background: LightGoldenRodYellow">(Details : {LOINC code '81258-6' = 'Sample variant allelic frequency [NFr]', given as 'Sample VAF'})</span></p><p><b>value</b>: 0.1938 relative frequency of a particular allele in the specimen<span style="background: LightGoldenRodYellow"> (Details: UCUM code 1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Allelic read depth <span style="background: LightGoldenRodYellow">(Details : {LOINC code '82121-5' = 'Allelic read depth', given as 'Allelic read depth'})</span></p><p><b>value</b>: 160.0 reads per base pair<span style="background: LightGoldenRodYellow"> (Details: UCUM code {reads}/{base} = '{reads}/{base}')</span></p></blockquote></div> </text> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/observation-category"/> <code value="laboratory"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="69548-6"/> <display value="Genetic variant assessment"/> </coding> </code> <subject> <reference value="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648"/> </subject> <performer> <reference value="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17"/> </performer> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA9633-4"/> <display value="Present"/> </coding> </valueCodeableConcept> <method> <coding> <system value="http://loinc.org"/> <code value="LA26398-0"/> <display value="Sequencing"/> </coding> </method> <specimen> <identifier> <system value="http://molit.eu/fhir/genomics/NamingSystem/cegat/tissueID"/> <value value="UNKNOWN"/> </identifier> </specimen> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48002-0"/> <display value="Genomic source class"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA6684-0"/> <display value="Somatic"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48018-6"/> <display value="Gene studied [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.genenames.org/geneId"/> <code value="HGNC:11100"/> <display value="SMARCA4"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="62374-4"/> <display value="Human reference sequence assembly version"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://loinc.org"/> <code value="LA14029-5"/> <display value="GRCh37"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48004-6"/> <display value="DNA change (c.HGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="c.2372C>T"/> <display value="c.2372C>T"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48019-4"/> <display value="DNA change type"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:1000002"/> <display value="substitution"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="48005-3"/> <display value="Amino acid change (pHGVS)"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://varnomen.hgvs.org"/> <code value="p.A791V"/> <display value="p.A791V"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes"/> <code value="functional-annotation"/> <display value="functional-annotation"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.sequenceontology.org"/> <code value="SO:0001583"/> <display value="missense_variant"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="51958-7"/> <display value="Transcript reference sequence [ID]"/> </coding> </code> <valueCodeableConcept> <coding> <system value="http://www.ncbi.nlm.nih.gov/refseq"/> <code value="NM_001128849.1"/> <display value="NM_001128849.1"/> </coding> </valueCodeableConcept> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="69547-8"/> <display value="Genomic ref allele [ID]"/> </coding> </code> <valueString value="C"/> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="81258-6"/> <display value="Sample VAF"/> </coding> </code> <valueQuantity> <value value="0.1938"/> <unit value="relative frequency of a particular allele in the specimen"/> <system value="http://unitsofmeasure.org"/> <code value="1"/> </valueQuantity> </component> <component> <code> <coding> <system value="http://loinc.org"/> <code value="82121-5"/> <display value="Allelic read depth"/> </coding> </code> <valueQuantity> <value value="160.0"/> <unit value="reads per base pair"/> <system value="http://unitsofmeasure.org"/> <code value="{reads}/{base}"/> </valueQuantity> </component> </Observation> </resource> <request> <method value="POST"/> <url value="Observation"/> </request> </entry> <entry> <fullUrl value="urn:uuid:6a80003f-822d-489e-8286-1f1dcba56dfa"/> <resource> <DiagnosticReport> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>identifier</b>: 42867</p><p><b>status</b>: final</p><p><b>category</b>: Genetics <span style="background: LightGoldenRodYellow">(Details : {http://terminology.hl7.org/CodeSystem/v2-0074 code 'GE' = 'Genetics', given as 'Genetics'})</span></p><p><b>code</b>: Master HL7 genetic variant reporting panel <span style="background: LightGoldenRodYellow">(Details : {LOINC code '81247-9' = 'Master HL7 genetic variant reporting panel', given as 'Master HL7 genetic variant reporting panel'})</span></p><p><b>subject</b>: <a href="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648">urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648</a></p><p><b>issued</b>: Sep 15, 2019 11:35:05 AM</p><p><b>performer</b>: <a href="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17">urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17</a></p><p><b>specimen</b>: <a href="urn:uuid:a2041c83-b73d-4fc8-9466-4ba4a92da516">urn:uuid:a2041c83-b73d-4fc8-9466-4ba4a92da516</a></p><p><b>result</b>: </p><ul><li><a href="urn:uuid:dac358c3-403a-4dbb-b478-4259aed882ae">urn:uuid:dac358c3-403a-4dbb-b478-4259aed882ae</a></li><li><a href="urn:uuid:1d773d66-cec7-44a2-b92a-46d00adeae00">urn:uuid:1d773d66-cec7-44a2-b92a-46d00adeae00</a></li><li><a href="urn:uuid:842d9ab9-d940-4f0c-adf9-e5c528f5c0e5">urn:uuid:842d9ab9-d940-4f0c-adf9-e5c528f5c0e5</a></li><li><a href="urn:uuid:9a9f9a4a-52e3-4738-bd0b-a25374bbf358">urn:uuid:9a9f9a4a-52e3-4738-bd0b-a25374bbf358</a></li><li><a href="urn:uuid:58828523-8893-45fc-973b-16290366c5e5">urn:uuid:58828523-8893-45fc-973b-16290366c5e5</a></li><li><a href="urn:uuid:2c28b23f-3e9f-4c03-8c8f-0e76bc5dc9c2">urn:uuid:2c28b23f-3e9f-4c03-8c8f-0e76bc5dc9c2</a></li><li><a href="urn:uuid:41bebbe5-e06f-4867-aa22-7c06db69dbd1">urn:uuid:41bebbe5-e06f-4867-aa22-7c06db69dbd1</a></li><li><a href="urn:uuid:1642f190-e2c6-4999-8040-b9b2a70618bf">urn:uuid:1642f190-e2c6-4999-8040-b9b2a70618bf</a></li><li><a href="urn:uuid:c3587931-242f-4129-93f9-be24500c8f29">urn:uuid:c3587931-242f-4129-93f9-be24500c8f29</a></li><li><a href="urn:uuid:41695fc0-1fd5-4cc8-95e6-82b2848a5cb6">urn:uuid:41695fc0-1fd5-4cc8-95e6-82b2848a5cb6</a></li><li><a href="urn:uuid:58eb14f6-4059-4168-86a9-155ae61d30e2">urn:uuid:58eb14f6-4059-4168-86a9-155ae61d30e2</a></li><li><a href="urn:uuid:1a71e80f-b044-4a91-80e1-eadbe5a53dca">urn:uuid:1a71e80f-b044-4a91-80e1-eadbe5a53dca</a></li></ul></div> </text> <identifier> <system value="http://molit.eu/fhir/genomics/NamingSystem/cegat/reportID"/> <value value="42867"/> </identifier> <status value="final"/> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/> <code value="GE"/> <display value="Genetics"/> </coding> </category> <code> <coding> <system value="http://loinc.org"/> <code value="81247-9"/> <display value="Master HL7 genetic variant reporting panel"/> </coding> </code> <subject> <reference value="urn:uuid:f7a438e6-f484-453d-97e8-aa4d51008648"/> </subject> <issued value="2019-09-15T11:35:05.722-04:00"/> <performer> <reference value="urn:uuid:fc16d84c-8584-4e1d-baae-64e2f95bfe17"/> </performer> <specimen> <reference value="urn:uuid:a2041c83-b73d-4fc8-9466-4ba4a92da516"/> </specimen> <result> <reference value="urn:uuid:dac358c3-403a-4dbb-b478-4259aed882ae"/> </result> <result> <reference value="urn:uuid:1d773d66-cec7-44a2-b92a-46d00adeae00"/> </result> <result> <reference value="urn:uuid:842d9ab9-d940-4f0c-adf9-e5c528f5c0e5"/> </result> <result> <reference value="urn:uuid:9a9f9a4a-52e3-4738-bd0b-a25374bbf358"/> </result> <result> <reference value="urn:uuid:58828523-8893-45fc-973b-16290366c5e5"/> </result> <result> <reference value="urn:uuid:2c28b23f-3e9f-4c03-8c8f-0e76bc5dc9c2"/> </result> <result> <reference value="urn:uuid:41bebbe5-e06f-4867-aa22-7c06db69dbd1"/> </result> <result> <reference value="urn:uuid:1642f190-e2c6-4999-8040-b9b2a70618bf"/> </result> <result> <reference value="urn:uuid:c3587931-242f-4129-93f9-be24500c8f29"/> </result> <result> <reference value="urn:uuid:41695fc0-1fd5-4cc8-95e6-82b2848a5cb6"/> </result> <result> <reference value="urn:uuid:58eb14f6-4059-4168-86a9-155ae61d30e2"/> </result> <result> <reference value="urn:uuid:1a71e80f-b044-4a91-80e1-eadbe5a53dca"/> </result> </DiagnosticReport> </resource> <request> <method value="POST"/> <url value="DiagnosticReport"/> </request> </entry> </Bundle>
IG © 2017+ HL7 International Clinical Genomics Work Group. Package hl7.fhir.uv.genomics-reporting#1.0.0 based on FHIR 4.0.1. Generated 2019-11-20
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