ClinVar Miner

Submissions for variant NM_000130.5(F5):c.6304C>T (p.Arg2102Cys)

gnomAD frequency: 0.00001  dbSNP: rs118203910
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000000688 SCV000899835 likely pathogenic Factor V deficiency 2019-02-01 criteria provided, single submitter research
OMIM RCV000000688 SCV000020838 pathogenic Factor V deficiency 2003-01-01 no assertion criteria provided literature only

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