ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.4384C>G (p.Pro1462Ala)

gnomAD frequency: 0.00001  dbSNP: rs61750090
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466430 SCV002761606 likely pathogenic von Willebrand disease type 2 2020-04-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000086760 SCV005408230 uncertain significance not provided 2024-01-30 criteria provided, single submitter clinical testing
Academic Unit of Haematology, University of Sheffield RCV000086760 SCV000118966 not provided not provided no assertion provided not provided

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