Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

## Example Observation: SNVexample

Page standards status: Informative

Profile: Variant

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')