ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5682T>G (p.Asp1894Glu)

gnomAD frequency: 0.00003  dbSNP: rs779574344
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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 RCV001362201 SCV001558205 likely benign Duchenne muscular dystrophy 2024-09-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831227 SCV002093473 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-20 no assertion criteria provided clinical testing

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