ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3686T>G (p.Val1229Gly)

gnomAD frequency: 0.00656  dbSNP: rs61749367
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250437 SCV000305306 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000086670 SCV000884881 benign not provided 2017-08-18 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851979 SCV000899691 uncertain significance Abnormality of coagulation 2019-02-01 criteria provided, single submitter research
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000086670 SCV001469943 benign not provided 2020-04-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000250437 SCV002070478 benign not specified 2018-08-03 criteria provided, single submitter clinical testing
GeneDx RCV000086670 SCV002504195 likely benign not provided 2021-04-03 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Laboratory of Hematology, Radboud University Medical Center RCV002264647 SCV002546286 uncertain significance von Willebrand disease type 1 2021-04-21 criteria provided, single submitter research
Laboratory of Hematology, Radboud University Medical Center RCV002264648 SCV002546288 uncertain significance von Willebrand disease type 3 2021-04-21 criteria provided, single submitter research
Laboratory of Hematology, Radboud University Medical Center RCV002264649 SCV002546289 uncertain significance von Willebrand disease type 2 2021-04-21 criteria provided, single submitter research
Academic Unit of Haematology, University of Sheffield RCV000086670 SCV000118874 not provided not provided no assertion provided not provided
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002243724 SCV002515786 uncertain significance Hereditary von Willebrand disease no assertion criteria provided research

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