Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Example Parameters: FindSubjectMolecConseqOutput

Generated Narrative: Parameters FindSubjectMolecConseqOutput

Parameters

consequence

Observation/MC1

NM_001395525.1:c.-281+2T>C - intronic_variant:loss_of_function_variant
consequence

Observation/MC2

NM_001366781.1:c.90T>C - synonymous_variant
consequence

Observation/MC3

Molecular Consequence
consequence

Observation/MC4

Molecular Consequence
variant

Observation/variantExampleMC

Variant