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
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)