ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.1531G>T (p.Asp511Tyr)

dbSNP: rs863225121
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000201438 SCV000256208 likely pathogenic Hypertrophic cardiomyopathy 15 criteria provided, single submitter clinical testing

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