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: obs-idh-ex

Page standards status: Informative

Profile: Diagnostic Implication

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

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

effective: 2023-06-01

performer: Organization Some lab

derivedFrom: Observation Genetic variant assessment

> component

> Related artifact: No display for RelatedArtifact (type: citation; url: https://www.ncbi.nlm.nih.gov/clinvar/variation/53685/#clinical-assertions)

> code: Genetic variation clinical significance [Imp]

> value: Pathogenic

> component

> code: Associated phenotype

> value: Cystic fibrosis

> component

> code: Condition Inheritance

> value: Autosomal recessive inheritance