ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.84G>A (p.Trp28Ter)

dbSNP: rs2130769073
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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 RCV002223117 SCV002500893 likely pathogenic Upshaw-Schulman syndrome criteria provided, single submitter clinical testing

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