Genomics Reporting Implementation Guide
1.1.0 - Ballot

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Example Observation: Example - NGS

Generated Narrative

category: Laboratory

code: Genetic variant assessment

value: Present

method: Sequencing

specimen:

component

code: Gene studied ID

value: AR

component

code: Cytogenetic (chromosome) location

value: chrX

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic source class

value: Somatic

component

code: Amino acid change (pHGVS)

value: p.(Ala412Val)

component

code: Amino acid change type

value: Missense

component

code: Transcript reference sequence [ID]

value: NM_000044.3

component

code: Sample VAF

value: 0.44 decimal

component

code: Allelic read depth

value: 120 reads per base pair