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Type:
Change Request
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Resolution: Considered - No action required
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Priority:
Medium
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Genomics Reporting (FHIR)
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Clinical Genomics
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documentation [deprecated]
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1.2.5
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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 ...)
- is duplicated by
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FHIR-19244 Level of Evidence CodeableConcept should have some kind of binding
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- Duplicate
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- is voted on by
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BALLOT-5403 Affirmative - Kevin Power : 2018-May-FHIR IG CG R1
- Closed