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  1. FHIR Specification Feedback
  2. FHIR-32101

Variant Inheritance should have method of determination documentable

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    • Icon: Change Request Change Request
    • Resolution: Persuasive
    • Icon: Medium Medium
    • Genomics Reporting (FHIR)
    • 1.1.0 [deprecated]
    • Clinical Genomics
    • Variant
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      add a new component to the R4 Variant profile for expressing the method of determination for variant inheritance below.
      •Component: variant-inheritance-basis
      •Short name: Evidential basis for variant inheritance
      •Definition: The method by which the variant inheritance is determined.
      •Code: LOINC 82309-6 (Basis for allelic phase)
      • Value binding: LOINC Answer List LL4050-2
      o Directly measured
      o Family DNA
      o Family history
      o Inferred from population data
      Consistent with other places where this answer list is used (e.g., the method of Haplotype and Sequence Phase Relationship profiles), we propose making the value set extensible, not required

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      add a new component to the R4 Variant profile for expressing the method of determination for variant inheritance below. •Component: variant-inheritance-basis •Short name: Evidential basis for variant inheritance •Definition: The method by which the variant inheritance is determined. •Code: LOINC 82309-6 (Basis for allelic phase) • Value binding: LOINC Answer List LL4050-2 o Directly measured o Family DNA o Family history o Inferred from population data Consistent with other places where this answer list is used (e.g., the method of Haplotype and Sequence Phase Relationship profiles), we propose making the value set extensible, not required
    • Willie Chang / Bob Dolin: 8 - 0 - 0
    • Enhancement
    • Compatible, substantive

      Variant Inheritance should have an optional associated location to document the method of determining this (like Sequence Phase Relationship does).

            james.jones James Jones
            rkutner Rachel Kutner (Inactive)
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              Created:
              Updated:
              Resolved: