Change LOINC answer list for complex variant type

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    • Type: Change Request
    • Resolution: Not Persuasive with Modification
    • Priority: Medium
    • Genomics Reporting (FHIR)
    • STU3
    • Clinical Genomics
    • (profiles) [deprecated]
    • 2.15
    • Hide

      Not Persuasive with Mod:

      1) Remove the link from SequenceConfiguration to ComplexVariant

      2) At the bottom of http://build.fhir.org/ig/HL7/genomics-reporting/sequencing.html to provide additional guidance on content and use of the profiles

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      Not Persuasive with Mod: 1) Remove the link from SequenceConfiguration to ComplexVariant 2) At the bottom of http://build.fhir.org/ig/HL7/genomics-reporting/sequencing.html to provide additional guidance on content and use of the profiles
    • Bob D/Bret H: 17-0-0
    • Correction
    • Non-compatible

      Complex variation profile, component Complex Variant Type (LOINC 81263-6): Suggest we remove "haplotype" and "hemizygous" from LOINC answer set. Rationale is that we now have a Haplotype class, so shouldn't allow folks to use the complex variant class to indicate a haplotype. Also, "hemizygous" is an answer for allelic state, so in and of itself does not constitute a complex variant.

            Assignee:
            Unassigned
            Reporter:
            Bob Dolin
            Watchers:
            1 Start watching this issue

              Created:
              Updated:
              Resolved: