Uploaded image for project: 'FHIR Specification Feedback'
  1. FHIR Specification Feedback
  2. FHIR-16242

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

    XMLWordPrintableJSON

Details

    • Icon: Change Request Change Request
    • Resolution: Retracted
    • Icon: Medium Medium
    • Genomics Reporting (FHIR)
    • STU3
    • Clinical Genomics
    • (profiles) [deprecated]
    • Hide

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

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

    Description

      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/]

      Attachments

        Activity

          People

            Unassigned Unassigned
            cerkyp Kevin Power
            Watchers:
            1 Start watching this issue

            Dates

              Created:
              Updated:
              Resolved: