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: obs2-interact-smn1-smn2

Page standards status: Informative

Profile: Variant

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: A Newborn

effective: 2019-04-01

performer: Organization some lab

value: Present

method: PCR

> component

> code: Gene studied [ID]

> value: SMN2

> component

> code: DNA change type

> value: copy_number_variation

> component

> code: Genomic source class [Type]

> value: Germline

> component

> code: Genomic structural variant copy number

> value: 2 1 (Details: UCUM code1 = '1')

> component

> code: Genomic reference sequence [ID]

> value: NC_000005.10

> component

> code: Structural variant inner start and end

> value: 70049523-70090528