ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.2771G>A (p.Arg924Gln)

gnomAD frequency: 0.01237  dbSNP: rs33978901
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000086632 SCV000889898 likely benign not provided 2023-03-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000086632 SCV001157484 benign not provided 2024-10-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243719 SCV002514652 benign von Willebrand disease type 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001787051 SCV002514654 benign von Willebrand disease type 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243720 SCV002514655 benign von Willebrand disease type 2 2021-12-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000086632 SCV002541192 uncertain significance not provided 2023-02-03 criteria provided, single submitter clinical testing
Laboratory of Hematology, Radboud University Medical Center RCV002243719 SCV002546264 uncertain significance von Willebrand disease type 1 2022-05-06 criteria provided, single submitter research
Laboratory of Hematology, Radboud University Medical Center RCV002243720 SCV002546266 uncertain significance von Willebrand disease type 2 2022-05-06 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV000086632 SCV004132420 benign not provided 2024-10-01 criteria provided, single submitter clinical testing VWF: BP4, BS1, BS2
Genetics and Molecular Pathology, SA Pathology RCV003447494 SCV004175294 uncertain significance Hereditary von Willebrand disease 2019-12-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000086632 SCV005213668 likely benign not provided criteria provided, single submitter not provided
Academic Unit of Haematology, University of Sheffield RCV000086632 SCV000118836 not provided not provided no assertion provided not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001787051 SCV001572669 likely benign von Willebrand disease type 3 2020-11-01 no assertion criteria provided clinical testing ClinGen Pathogenicity Calculator
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV002243720 SCV002513402 benign von Willebrand disease type 2 2022-04-26 no assertion criteria provided clinical testing

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