ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.1519C>T (p.Arg507Trp)

dbSNP: rs909831139
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752332 SCV001988424 uncertain significance not provided 2019-04-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Fulgent Genetics, Fulgent Genetics RCV005040349 SCV005676900 uncertain significance Upshaw-Schulman syndrome 2024-03-08 criteria provided, single submitter clinical testing

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