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  1. FHIR Specification Feedback
  2. FHIR-19829

Inclusion of Sanger confirmation information

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    • Type: Change Request
    • Status: Resolved - change required (View Workflow)
    • Priority: Medium
    • Resolution: Persuasive with Modification
    • Specification:
      Genomics Reporting (FHIR)
    • Work Group:
      Clinical Genomics
    • Related Artifact(s):
      Variant
    • Grouping:
    • Resolution Description:
      Hide

      NEW PROPOSAL

      Based on https://chat.fhir.org/#narrow/stream/179197-genomics/topic/Sanger.20confirmation.2Ftesting

      New CodeSystem / ValueSet

      variant-confidence-status

      • HIGH: High confidence true positive variant call. Suitable for clinical reporting.
      • INTERMEDIATE: Candidate true positive variant call. Unable to confirm without additional testing.
      • LOW: High confidence false positive variant call.

      New Component on Variant

      variant-confidence-status (0..1)

      TBDCode = variant-confidence-status

      Data Type=CodeableConcept (required binding to variant-confirmation-status ValueSet)

       Add Publication to Glossary

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      NEW PROPOSAL Based on https://chat.fhir.org/#narrow/stream/179197-genomics/topic/Sanger.20confirmation.2Ftesting New CodeSystem / ValueSet variant-confidence-status HIGH: High confidence true positive variant call. Suitable for clinical reporting. INTERMEDIATE: Candidate true positive variant call. Unable to confirm without additional testing. LOW: High confidence false positive variant call. New Component on Variant variant-confidence-status (0..1) TBDCode = variant-confidence-status Data Type=CodeableConcept (required binding to variant-confirmation-status ValueSet)  Add Publication to Glossary
    • Resolution Vote:
      Bret H / Jamie J : 12 - 0 - 1
    • Change Category:
      Enhancement
    • Change Impact:
      Compatible, substantive
    • Applied for Version:
      current

      Description

      For our clinical genetic tests, we validate SNVs using Sanger and CNVs using MLPA. Would the Described or Complex Variant be the appropriate resource to include validation info? If so, what would be an appropriate field to house this info?

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              Assignee:
              Unassigned Unassigned
              Reporter:
              mullai murugan Mullai Murugan
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                Updated:
                Resolved:
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