Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

Publication Build: This will be filled in by the publication tooling

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)