ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.326G>C (p.Gly109Ala)

gnomAD frequency: 0.00002  dbSNP: rs1048652498
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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 RCV001322688 SCV001513572 likely benign Duchenne muscular dystrophy 2025-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830975 SCV002092915 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-01-22 no assertion criteria provided clinical testing

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