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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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              Assignee:
              Unassigned Unassigned
              Reporter:
              cerkyp Kevin Power
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