ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.531-17ATGTGT[3]

dbSNP: rs758404687
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552916 SCV000625920 likely benign Duchenne muscular dystrophy 2025-01-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829550 SCV002092895 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-07-08 no assertion criteria provided clinical testing

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