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  1. FHIR Specification Feedback
  2. FHIR-16175

Genetic Impact - Add ACMG reference for level of evidence

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    • Type: Change Request
    • Status: Triaged (View Workflow)
    • Priority: Medium
    • Resolution: Considered - No action required

      Description

      Can we support the ACMG "Criteria for classifying pathogenic/benign variants"? See here: https://www.acmg.net/docs/standards_guidelines_for_the_interpretation_of_sequence_variants.pdf (page 8-9).

      My sense is that there can be multiple categories associated with a variant, and I am not sure we can support that as our profiles are structured today?

      We should also consider how we could allow the specific category (PS1, PM2, etc..) to be sent as well as the Evidence (Strong, Moderate, etc ...)

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          is duplicated by

          Change Request - A request for a change that is more than a simple Technical Correction to one of HL7's specifications FHIR-19244 Level of Evidence CodeableConcept should have some kind of binding

          • Medium - Has the potential to affect progress.
          • Duplicate
          is voted on by

          Ballot Vote - The designation of a comment about a specification as related to an overall Ballot Submission BALLOT-5403 Affirmative - Kevin Power : 2018-May-FHIR IG CG R1

          • Closed

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              Assignee:
              Unassigned Unassigned
              Reporter:
              cerkyp Kevin Power
              Watchers:
              3 Start watching this issue

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                Updated:
                Resolved: