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Type:
Change Request
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Resolution: Not Persuasive
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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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(profiles) [deprecated]
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1.2.5
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Bob D / Bob M: 11-0-0
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Enhancement
Existing Wording: Figure 7: Inherited Disease Pathogenicity 53037-8
Comment:
Formerly called variant clinical significance. With answer list
1. pathogenic
2. Likely pathogenic LA6704-6
3.Uncertain significance LA6705-3
4. Likely benign LA6706-1
5. Benign
Believe it is a always reported with each variant. Seperating it into a separate profile may make it seem disconnected. This particular list is from a published genomics paper PMID 25741868 (PMCID: PMC4544753). But there may be a desire to tweak it.
Summary:
Seperating it into a separate profile may make it seem disconnected.
- is voted on by
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BALLOT-5510 Negative - Clement McDonald : 2018-May-FHIR IG CG R1
- Balloted