ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2724T>G (p.Asp908Glu)

gnomAD frequency: 0.00001  dbSNP: rs372780045
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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 RCV001325431 SCV001516423 likely benign Duchenne muscular dystrophy 2024-04-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831003 SCV002089685 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-02-26 no assertion criteria provided clinical testing

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