DescribeVariant.component(Simple var ID) LOINC code is for "Discrete" Variant

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    • Type: Change Request
    • Resolution: Retracted
    • Priority: Medium
    • Genomics Reporting (FHIR)
    • STU3
    • Clinical Genomics
    • (profiles) [deprecated]
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      Retracted: Description of the LOINC code matches the intention of the component.

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      Retracted: Description of the LOINC code matches the intention of the component.
    • Enhancement

      Current LOINC code on the 'Simple var ID' component seems to be for 'Discrete' variant:

      https://r.details.loinc.org/LOINC/81252-9.html?sections=Comprehensive

      Definition:

      TERM DEFINITION/DESCRIPTION(S)
      This term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880^NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)^ClinVar. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]

            Assignee:
            Unassigned
            Reporter:
            Kevin Power
            Watchers:
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              Created:
              Updated:
              Resolved: