ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln)

gnomAD frequency: 0.00006  dbSNP: rs780538558
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001027679 SCV001190243 likely pathogenic von Willebrand disease type 1 2019-05-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001027679 SCV004808150 uncertain significance von Willebrand disease type 1 2024-03-29 criteria provided, single submitter clinical testing

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