ClinVar Miner

Submissions for variant NM_000130.5(F5):c.1673A>G (p.Tyr558Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466883 SCV002761749 likely pathogenic Factor V deficiency 2021-09-01 criteria provided, single submitter clinical testing PM2, PP3, PM5,PP4

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