Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot
Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot
This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions
Bundle bundle-CYP2C19 of type transaction
Entry 1 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe01
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca62b5"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96448129-?
Entry 2 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe02
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca6342"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96448380-?
Entry 3 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe03
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca63bf"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: C
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96448994-?
Entry 4 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe04
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca643a"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: A
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96454156-?
Entry 5 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe05
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca64b5"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: homozygous (LOINC#LA6705-3)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: A
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96454241-?
Entry 6 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe06
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca6531"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96456161-?
Entry 7 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe07
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca65ac"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96462109-?
Entry 8 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe08
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca6627"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96464087-?
Entry 9 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe09
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca66a1"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: homozygous (LOINC#LA6705-3)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: C
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96465938-?
Entry 10 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe10
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca671c"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96466078-?
Entry 11 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe11
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca6797"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: A
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96466342-?
Entry 12 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe12
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca6812"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: homozygous (LOINC#LA6705-3)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96466824-?
Entry 13 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe13
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca688c"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: homozygous (LOINC#LA6705-3)
component
code: Ref nucleotide (LOINC#69547-8)
value: T
component
code: Alt allele (LOINC#69551-0)
value: TATA
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96466884-?
Entry 14 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe14
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca6922"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: T
component
code: Alt allele (LOINC#69551-0)
value: C
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96468808-?
Entry 15 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe15
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca69a3"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96469632-?
Entry 16 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe16
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca6a1d"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96469669-?
Entry 17 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe17
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca6a97"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: C
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96470954-?
Entry 18 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe18
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca6b11"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96475154-?
Entry 19 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe19
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca6b86"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: C
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96476401-?
Entry 20 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe20
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca6c31"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: A
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96477558-?
Entry 21 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe21
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca6ccc"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: A
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96478608-?
Entry 22 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe22
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca6d4b"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96480890-?
Entry 23 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe23
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca6de3"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: homozygous (LOINC#LA6705-3)
component
code: Ref nucleotide (LOINC#69547-8)
value: GT
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96484540-?
Entry 24 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe24
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca6e86"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: A
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96484599-?
Entry 25 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe25
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca6f11"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: T
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96484998-?
Entry 26 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe26
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca6fa5"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: homozygous (LOINC#LA6705-3)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96485680-?
Entry 27 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe27
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7025"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96486504-?
Entry 28 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe28
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca70a2"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: CAA
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96487380-?
Entry 29 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe29
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7141"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96487451-?
Entry 30 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe30
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca71bf"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96487749-?
Entry 31 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe31
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca724a"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: A
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96488888-?
Entry 32 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe32
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca72e4"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: A
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96490629-?
Entry 33 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe33
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7377"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: C
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96491109-?
Entry 34 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe34
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca740a"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96491772-?
Entry 35 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe35
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7497"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96493358-?
Entry 36 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe36
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7513"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96493709-?
Entry 37 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe37
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca758e"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96495232-?
Entry 38 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe38
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7609"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96499931-?
Entry 39 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe39
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7684"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96500106-?
Entry 40 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe40
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca76ff"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96503400-?
Entry 41 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe41
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7779"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96504557-?
Entry 42 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe42
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca77f4"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: T
component
code: Alt allele (LOINC#69551-0)
value: TA
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96504737-?
Entry 43 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe43
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca786f"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: T
component
code: Alt allele (LOINC#69551-0)
value: C
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96506173-?
Entry 44 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe44
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca78eb"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: A
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96509779-?
Entry 45 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe45
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7967"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96511926-?
Entry 46 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe46
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca79ef"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: GA
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96512422-?
Entry 47 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe47
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7a79"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: CA
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96513643-?
Entry 48 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe48
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7afb"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96515933-?
Entry 49 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe49
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7bcb"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: homozygous (LOINC#LA6705-3)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96516778-?
Entry 50 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe50
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7c49"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: homozygous (LOINC#LA6705-3)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96517909-?
Entry 51 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe51
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7cd3"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96517959-?
Entry 52 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe52
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7d94"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96519061-?
Entry 53 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe53
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7e45"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: homozygous (LOINC#LA6705-3)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96521422-?
Entry 54 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe54
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7ed6"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96521657-?
Entry 55 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe55
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7f69"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96522989-?
Entry 56 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe56
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca7ffd"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: homozygous (LOINC#LA6705-3)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: A
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96525536-?
Entry 57 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe57
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca8085"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: T
component
code: Alt allele (LOINC#69551-0)
value: TTGTA
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96526061-?
Entry 58 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe58
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca811f"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: A
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96526109-?
Entry 59 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe59
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca81b9"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: AT
component
code: Alt allele (LOINC#69551-0)
value: A
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96527152-?
Entry 60 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe60
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca8252"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: A
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96527334-?
Entry 61 - fullUrl = urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe01
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca82e4"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96527722-?
Entry 62 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe62
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca837c"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: homozygous (LOINC#LA6705-3)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96529912-?
Entry 63 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe63
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca8410"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96530504-?
Entry 64 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe64
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca8493"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: T
component
code: Alt allele (LOINC#69551-0)
value: C
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96532327-?
Entry 65 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe65
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca8514"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96532545-?
Entry 66 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe66
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca8596"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: A
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96532688-?
Entry 67 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe67
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca8618"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96533050-?
Entry 68 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe68
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca869c"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: G
component
code: Alt allele (LOINC#69551-0)
value: A
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96534584-?
Entry 69 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe69
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca871e"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: T
component
code: Alt allele (LOINC#69551-0)
value: C
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96535689-?
Entry 70 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe70
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca879f"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: A
component
code: Alt allele (LOINC#69551-0)
value: G
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96535743-?
Entry 71 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe71
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca8820"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: ATTC
component
code: Alt allele (LOINC#69551-0)
value: TATT
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96536045-?
Entry 72 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe72
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca88a5"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: T
component
code: Alt allele (LOINC#69551-0)
value: A
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96536455-?
Entry 73 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe73
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca8927"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96536708-?
Entry 74 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe74
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "dv-5c7e9e1ca89a8"
Profile: Variant
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic variant assessment (LOINC#69548-6)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Present (LOINC#LA9633-4)
component
code: Human reference sequence assembly version (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000010.10 (Gene Reference Sequence Collection#NC_000010.10)
component
code: Allelic state (LOINC#53034-5)
value: heterozygous (LOINC#LA6706-1)
component
code: Ref nucleotide (LOINC#69547-8)
value: C
component
code: Alt allele (LOINC#69551-0)
value: T
component
code: Genomic coord system (LOINC#92822-6)
value: 1-based character counting (LOINC#LA30102-0)
component
code: Genomic allele start-end (LOINC#81254-5)
value: 96537137-?
Entry 75 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe75
Request:
POST Observation
Resource Observation:
Generated Narrative: Observation
Resource Observation "sid-5c7e9e1ca8a29"
Profile: Sequence Phase Relationship
status: FINAL
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Allelic phase (LOINC#82120-7)
subject: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)
effective: 2019-03-05
issued: Mar 5, 2019, 4:04:44 PM
performer: See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)
value: Cis (Sequence Phase Relationship Codes#Cis)
derivedFrom:
Entry 76 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeaa
Request:
POST DiagnosticReport
Resource DiagnosticReport:
Genetic analysis report (Genetics)
Report Details
Code Value When For Reported Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Genetic variant assessment Present 2019-03-05 2019-03-05 16:04:44+0000 Allelic phase Cis 2019-03-05 2019-03-05 16:04:44+0000
Entry 77 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab
Request:
POST Organization
Resource Organization:
Generated Narrative: Organization
Resource Organization "performingLab"
name: aTypingLab Inc
alias: aTL
Contacts
Telecom Address ph: 1-800-555-1234(WORK) 123 Main St, Sometown, ND 99999(WORK)
Entry 78 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac
Request:
POST Patient
Resource Patient:
John Storm(OFFICIAL) Male, DoB: 1986-12-31
IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#3.0.0-ballot based on FHIR 4.0.1. Generated 2023-12-18
Links: Table of Contents |
QA Report
| Version History |
|
Propose a change