ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.555T>C (p.Ser185=)

gnomAD frequency: 0.00001  dbSNP: rs755537358
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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 RCV001422469 SCV001625019 likely benign Duchenne muscular dystrophy 2022-08-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826233 SCV002092892 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-10-24 no assertion criteria provided clinical testing

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