ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter)

gnomAD frequency: 0.00001  dbSNP: rs61751296
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000086892 SCV000322374 pathogenic not provided 2020-06-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 23702511, 25525159, 1448779, 7989040, 1415226, 25673639, 16959681, 29423401, 29984440)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000086892 SCV000888708 pathogenic not provided 2018-07-19 criteria provided, single submitter clinical testing
Laboratory of Hematology, Radboud University Medical Center RCV002264634 SCV002546252 pathogenic von Willebrand disease type 1 2020-12-10 criteria provided, single submitter research
OMIM RCV000000326 SCV000020470 pathogenic von Willebrand disease type 3 1992-10-01 no assertion criteria provided literature only
Academic Unit of Haematology, University of Sheffield RCV000086892 SCV000119098 not provided not provided no assertion provided not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV000000326 SCV001572744 pathogenic von Willebrand disease type 3 2020-11-01 no assertion criteria provided clinical testing variant already reported in ClinVar
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000086892 SCV001807859 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000086892 SCV001956796 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000086892 SCV001965810 pathogenic not provided no assertion criteria provided clinical testing
GeneReviews RCV002227438 SCV002507240 not provided Hereditary von Willebrand disease no assertion provided literature only

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