ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.7987C>T (p.Arg2663Cys)

gnomAD frequency: 0.00004  dbSNP: rs370662678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Hematology, Radboud University Medical Center RCV002264849 SCV002546255 pathogenic von Willebrand disease type 1 2020-12-10 criteria provided, single submitter research
Genetics and Molecular Pathology, SA Pathology RCV003447621 SCV004175545 likely pathogenic Von Willebrand disease type 2B 2021-12-02 criteria provided, single submitter clinical testing

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