Details
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Change Request
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Resolution: Persuasive with Modification
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Medium
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Genomics Reporting (FHIR)
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1.0 [deprecated]
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Clinical Genomics
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genomics [deprecated]
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Arthur Herman/Rachel Kutner: 14-0-1
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Enhancement
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Non-compatible
Description
The concept of "Functional Annotation" in the FHIR spec is tied to the Sequence Ontology list labeled "Structural_Variant" (http://sequenceontology.org/browser/current_svn/term/SO:0001537) which can be easily confused with the concept of Functional Effect. This list of terms seems to better correspond with what ClinVar refers to as the "Variant Consequence", and would be less confusing if it were renamed as such to avoid confusion with "Functional Effect".
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