ClinVar Miner

Submissions for variant NM_000130.5(F5):c.2401C>T (p.Gln801Ter)

dbSNP: rs118203908
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000000684 SCV002569296 pathogenic Factor V deficiency criteria provided, single submitter clinical testing
OMIM RCV000000684 SCV000020834 pathogenic Factor V deficiency 2001-07-15 no assertion criteria provided literature only

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