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Type:
Change Request
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Resolution: Persuasive with Modification
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Priority:
Medium
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Genomics Reporting (FHIR)
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STU3
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Clinical Genomics
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documentation [deprecated]
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Clem / Bob F: 10-0-1
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Clarification
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Non-substantive
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)'
- is voted on by
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BALLOT-5411 Affirmative - Kevin Power : 2018-May-FHIR IG CG R1
- Closed