Details
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Change Request
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Resolution: Persuasive
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Medium
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Genomics Reporting (FHIR)
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2.0.0
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Clinical Genomics
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Variant
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Variant Reporting
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Bob F / Rob R : 6 - 0 - 0
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Clarification
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Non-substantive
Description
Our Variant.valueCodeableConcept is bound to a value set with 'Absent' as a value, but we should build guidance to help implementers do this consistently.
It should also cover situations where the 'No call' or 'Indeterminate' should be used - for example: low coverage of an important region but data producer would like to call out a specific variant that will be expected by data consumers was not determined (and how this works with Region Studied profile).