ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.421G>A (p.Asp141Asn)

dbSNP: rs61753992
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852120 SCV000899727 likely pathogenic Hereditary von Willebrand disease 2019-02-01 criteria provided, single submitter research
Laboratory of Hematology, Radboud University Medical Center RCV002264661 SCV002546265 pathogenic von Willebrand disease type 1 2022-02-03 criteria provided, single submitter research
Academic Unit of Haematology, University of Sheffield RCV000086743 SCV000118949 not provided not provided no assertion provided not provided
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000852120 SCV002515764 pathogenic Hereditary von Willebrand disease no assertion criteria provided clinical testing

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