ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.7732C>T (p.Arg2578Cys)

gnomAD frequency: 0.00004  dbSNP: rs369970893
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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 RCV000852210 SCV000899915 likely pathogenic Hereditary von Willebrand disease 2019-02-01 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV004792445 SCV005408211 uncertain significance not provided 2024-04-25 criteria provided, single submitter clinical testing BP4, PM2_moderate

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