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: variant-with-molec-consequences

Page standards status: Informative

Profile: Variant

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Alanine B. Everyone Unknown, DoB: 1951-01-20 ( Medical Record Number: m234 (use: usual, ))

effective: 2023-06-01

performer: Organization Some lab

value: Present

> component

> code: Genomic source class

> value: Germline

> component

> code: Genomic reference sequence ID

> value: NC_000001.10

> component

> code: Allelic state

> value: Heterozygous

> component

> code: Discrete genetic variant

> value: NC_000001.10:g.86852621A>G

> component

> code: Sample VAF

> value: 0.6 relative frequency of a particular allele in the specimen (Details: UCUM code1 = '1')

> component

> code: Genomic Ref allele [ID]

> value: A

> component

> code: Genomic Alt allele [ID]

> value: G

> component

> code: Genomic coord system

> value: 0-based interval counting

> component

> code: Variant exact start-end

> value: 86852620-?

> component

> code: Population allele frequency

> value: 0.327084 1 (Details: UCUM code1 = '1')