This page is part of the HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1 (v4.0.0-ballot: STU4 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 3.0.0. For a full list of available versions, see the Directory of published versions
Generated Narrative: Observation
Resource Observation "genomic-variant-jenny-m"
Profile: Genomic Variant Profile
status: final
category: Laboratory (Observation Category Codes#laboratory)
code: Genetic variant assessment (LOINC#69548-6)
subject: Patient/cancer-patient-jenny-m " M"
effective: 2018-03-15
performer: Practitioner/us-core-practitioner-owen-oncologist " ONCOLOGIST"
value: Present (LOINC#LA9633-4)
method: Sequencing (LOINC#LA26398-0)
component
code: Gene studied ID (LOINC#48018-6)
value: PALB2 (HUGO Gene Nomenclature Committee Genes#HGNC:26144)
component
code: Simple var ID (LOINC#81252-9)
value: NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter) (ClinVar Variant ID#128144)
component
code: Struct var HGVS name (LOINC#81290-9)
value: NC_000016.10:g.23603471G>T (Human Genome Variation Society nomenclature#NC_000016.10:g.23603471G>T)
component
code: Genomic source class (LOINC#48002-0)
value: Somatic (LOINC#LA6684-0)