Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

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

Example Observation: molec-conseq1

Generated Narrative: Observation molec-conseq1

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