Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

CodeSystem: Variant Confidence Status Codes

Summary

Defining URL:http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/variant-confidence-status-cs
Version:2.0.0
Name:VariantConfidenceStatusCS
Title:Variant Confidence Status Codes
Status:Active as of 2022-05-09 04:59:16+0000
Definition:

A code that represents the confidence of a true positive variant call.

Publisher:HL7 Clinical Genomics Working Group
Content:Complete: All the concepts defined by the code system are included in the code system resource
Source Resource:XML / JSON / Turtle

This Code system is referenced in the content logical definition of the following value sets:

This code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/variant-confidence-status-cs defines the following codes:

CodeDisplayDefinition
high HighHigh confidence true positive variant call. Suitable for clinical reporting.
intermediate IntermediateCandidate true positive variant call. Unable to confirm without additional testing.
low LowHigh confidence false positive variant call.