Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT 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: diagnosticImplication-interact-smn1-smn2

Generated Narrative: Observation diagnosticImplication-interact-smn1-smn2

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

subject: A Newborn

effective: 2019-04-01

performer: Organization some lab

method: Computational analysis

derivedFrom: Observation Genetic variant assessment

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Level of Evidence

value: Very strong evidence pathogenic

component

code: Associated phenotype

value: Spinal muscular atrophy (SMA)