ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg)

dbSNP: rs267607334
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851986 SCV000899699 likely pathogenic Hereditary von Willebrand disease 2019-02-01 criteria provided, single submitter research
Laboratory of Hematology, Radboud University Medical Center RCV002264651 SCV002546295 pathogenic von Willebrand disease type 1 2021-03-04 criteria provided, single submitter research
Laboratory of Hematology, Radboud University Medical Center RCV002264652 SCV002546296 pathogenic von Willebrand disease type 2 2021-03-04 criteria provided, single submitter research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002264652 SCV002569264 likely pathogenic von Willebrand disease type 2 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002264651 SCV002569265 likely pathogenic von Willebrand disease type 1 criteria provided, single submitter clinical testing
Academic Unit of Haematology, University of Sheffield RCV000086693 SCV000118897 not provided not provided no assertion provided not provided

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