ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.802del (p.Arg268fs)

dbSNP: rs2147265894
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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 RCV002280913 SCV002569275 pathogenic Thrombocytopenia criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245412 SCV002515653 pathogenic Wiskott-Aldrich syndrome no assertion criteria provided research

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