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  1. FHIR Specification Feedback
  2. FHIR-16240

Several unclear names on the DescribeVariant diagram compared to profile

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    • Icon: Change Request Change Request
    • Resolution: Persuasive with Modification
    • Icon: Medium Medium
    • Genomics Reporting (FHIR)
    • STU3
    • Clinical Genomics
    • documentation [deprecated]
    • Hide

      Current:

      Diagram: 'dna-chg' | Profile: 'Transcript DNA change (cHGVS)'

      Proposed

      Diagram: 'transcript-change' | Profile: <no change>

      Current:

      Diagram: 'variation-code' | Profile: 'Simple var ID'

      Proposed:

      Diagram: <no change> | Profile: 'Variation Code'

      Current:

      Diagram: 'genomic-dna-chg' | Profile: 'Genomic DNA change (gHGVS)'

      Proposed:

      Diagram: 'genomic-change' | Profile: <no change>

      Show
      Current: Diagram: 'dna-chg' | Profile: 'Transcript DNA change (cHGVS)' Proposed Diagram: 'transcript-change' | Profile: <no change> Current: Diagram: 'variation-code' | Profile: 'Simple var ID' Proposed: Diagram: <no change> | Profile: 'Variation Code' Current: Diagram: 'genomic-dna-chg' | Profile: 'Genomic DNA change (gHGVS)' Proposed: Diagram: 'genomic-change' | Profile: <no change>
    • Clem / Bob F: 10-0-1
    • Clarification
    • Non-substantive

    Description

      There are several components defined on the DescribedVariant profile as compared to its diagram on the Sequenced Variants page in the IG. We should have better names on the diagram to more clearly reflect the data.

      Here are examples, but each item should be carefully considered:

      Diagram: 'dna-chg' | Profile: 'Transcript DNA change (cHGVS)'

      Diagram: 'variation-code' | Profile: 'Simple var ID'

      Diagram: 'genomic-dna-chg' | Profile: 'Genomic DNA change (gHGVS)'

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            Unassigned Unassigned
            cerkyp Kevin Power
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              Created:
              Updated:
              Resolved: