Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Example Observation: Variant-Somatic-Clinical-Trial

Generated Narrative

Resource "Variant-Somatic-Clinical-Trial"

Profile: Variant

status: final

category: Laboratory (Observation Category Codes#laboratory)

code: Genetic variant assessment (LOINC#69548-6)

subject: Patient/CGPatientExample01 " EVERYMAN"

effective: 2019-04-01

value: Present (LOINC#LA9633-4)

interpretation: Positive (qualifier value) (SNOMED CT#10828004)

method: Sequencing (LOINC#LA26398-0)

specimen: Specimen/GenomicSpecimenExample01

component

code: Gene studied [ID] (LOINC#48018-6)

value: FGFR2 (geneId#HGNC:3689)

component

code: Genomic DNA change (gHGVS) (LOINC#81290-9)

value: NC_000010.11:g.121498525T>G (Human Genome Variation Society nomenclature#NC_000010.11:g.121498525T>G)

component

code: Genomic source class [Type] (LOINC#48002-0)

value: Somatic (LOINC#LA6684-0)