ClinVar Miner

Submissions for variant NM_000130.5(F5):c.1830_1831dup (p.His611fs)

dbSNP: rs1571577365
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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 RCV000852059 SCV000899568 likely pathogenic Factor V deficiency 2019-02-01 criteria provided, single submitter research
Baylor Genetics RCV003333109 SCV004041516 pathogenic Thrombophilia due to activated protein C resistance 2023-07-12 criteria provided, single submitter clinical testing

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