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Type:
Change Request
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Resolution: Not Persuasive with Modification
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Priority:
Medium
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FHIR Core (FHIR)
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DSTU2
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Clinical Genomics
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MolecularSequence (was Sequence)
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10.4.6
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David Kreda/Clem McDownload: 25-0-2
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Clarification
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Non-substantive
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DSTU2
Existing Wording: Definition
A' is a variant (mutation) of A = definition every instance of A' is either an immediate mutation of some instance of A, or there is a chain of immediate mutation processes linking A' to some instance of A
Comment:
The definition is not at all clear. Is this supposed to represent any kind of complex variant? Or just one contiguous chunk that varies? And it is not at all clear why you need that definition in addition to the ref Allele and Alt allele, and the start and stop of the ref Allele. This is in real need of some examples.
Summary:
variant examples
- is voted on by
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BALLOT-3101 Negative - Clement McDonald : 2018-Sep-FHIR R1
- Balloted