ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.3251G>A (p.Cys1084Tyr)

dbSNP: rs1554795391
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV002274487 SCV002558845 likely pathogenic Upshaw-Schulman syndrome criteria provided, single submitter clinical testing

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