ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8824G>T (p.Ala2942Ser)

gnomAD frequency: 0.00033  dbSNP: rs755127162
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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 RCV001520230 SCV001729291 benign Duchenne muscular dystrophy 2024-06-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830952 SCV002080234 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-11-17 no assertion criteria provided clinical testing

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