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: molec-conseq1

Page standards status: Informative

Profile: Molecular Consequence

status: Final

category: Laboratory, Genetics

code: Molecular Consequence

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

effective: 2023-06-01

performer: Organization Some lab

interpretation: High

derivedFrom: Observation Genetic variant assessment

> component

> code: Transcript reference sequence [ID]

> value: NM_001395525.1

> component

> code: Feature Consequence

> value: splice_donor_variant

> component

> code: Functional Effect

> value: loss_of_function_variant