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: VariantExample

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: 2019-04-01

performer: Organization some lab

value: Present

> component

> code: Genomic reference sequence [ID]

> value: NC_000017.11

> component

> code: Ref nucleotide

> value: ATTGAGGGAAAACACAT

> component

> code: Alt allele

> value: T

> component

> code: Genomic allele start-end

> value: 39723965-?

> component

> code: Genomic coord system

> value: 0-based interval counting