ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3569G>T (p.Cys1190Phe)

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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 RCV003313897 SCV004013111 likely pathogenic von Willebrand disease type 2 criteria provided, single submitter clinical testing

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