ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.6553C>T (p.Arg2185Trp)

gnomAD frequency: 0.00003  dbSNP: rs569962285
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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 RCV000852182 SCV000899854 uncertain significance Abnormality of coagulation 2019-02-01 criteria provided, single submitter research
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000986084 SCV001134915 uncertain significance not provided 2019-08-19 criteria provided, single submitter clinical testing
Laboratory of Hematology, Radboud University Medical Center RCV002264739 SCV002546349 uncertain significance von Willebrand disease type 2 2020-12-10 criteria provided, single submitter research
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029879 SCV001192670 likely pathogenic von Willebrand disease type 1 2019-11-29 no assertion criteria provided clinical testing

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