ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.356C>T (p.Ser119Phe)

dbSNP: rs281875291
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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 RCV002221146 SCV002498581 likely pathogenic Upshaw-Schulman syndrome 2020-01-01 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059769 SCV000091339 not provided not provided no assertion provided not provided

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