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. For a full list of available versions, see the Directory of published versions

ValueSet: Variant Confidence Status

Official URL: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs Version: 3.0.0
Active as of 2024-12-12 Computable Name: VariantConfidenceStatusVS

A code that classifies the confidence for calling this variant.

References

Logical Definition (CLD)

Generated Narrative: ValueSet variant-confidence-status-vs

 

Expansion

Generated Narrative: ValueSet

Expansion based on codesystem Variant Confidence Status Codes v3.0.0 (CodeSystem)

This value set contains 3 concepts

CodeSystemDisplayDefinition
  highhttp://terminology.hl7.org/CodeSystem/variant-confidence-status-csHigh

High confidence true positive variant call. Suitable for clinical reporting.

  intermediatehttp://terminology.hl7.org/CodeSystem/variant-confidence-status-csIntermediate

Candidate true positive variant call. Unable to confirm without additional testing.

  lowhttp://terminology.hl7.org/CodeSystem/variant-confidence-status-csLow

High confidence false positive variant call.

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code