ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2682C>T (p.Ser894=)

gnomAD frequency: 0.00001  dbSNP: rs398123904
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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 RCV000630634 SCV000751599 likely benign Duchenne muscular dystrophy 2023-09-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831838 SCV002089689 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-12-05 no assertion criteria provided clinical testing

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