ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.5087T>G (p.Leu1696Arg)

dbSNP: rs2136409514
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Total submissions: 2
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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 RCV003313799 SCV004013006 likely pathogenic von Willebrand disease type 1 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245486 SCV002515773 likely pathogenic Hereditary von Willebrand disease no assertion criteria provided research

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