ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.7122_7123insAGCCCCCCCCCCCCGT (p.Cys2375fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002280974 SCV002569259 likely pathogenic von Willebrand disease type 1 criteria provided, single submitter clinical testing

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