Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Example Observation: SNVexample

Generated Narrative: Observation SNVexample

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Anonymous Patient (no stated gender), DoB Unknown

effective: 2023-06-01

performer: Organization Some lab

value: Present

method: Sequencing

specimen: Identifier: http://slk-kliniken.de/fhir/namingSystem/tissueID/16-123456-23

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: DNA change (c.HGVS)

value: NM_000044.6:c.7G>A

component

code: Amino acid change (pHGVS)

value: NP_000035.2:p.Val3Met

component

code: Transcript reference sequence [ID]

value: NM_000044.6

component

code: Sample VAF

value: 0.44 decimal

component

code: Allelic read depth

value: 120 reads per base pair (Details: UCUM code1 = '1')