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  1. FHIR Specification Feedback
  2. FHIR-19829

Inclusion of Sanger confirmation information

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    • Icon: Change Request Change Request
    • Resolution: Persuasive with Modification
    • Icon: Medium Medium
    • Genomics Reporting (FHIR)
    • Clinical Genomics
    • Variant
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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

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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
    • Bret H / Jamie J : 12 - 0 - 1
    • Enhancement
    • Compatible, substantive
    • 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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            Unassigned Unassigned
            mullai murugan Mullai Murugan
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              Updated:
              Resolved: