ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1742C>T (p.Ala581Val)

gnomAD frequency: 0.00004  dbSNP: rs763155705
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519105 SCV001727914 benign Duchenne muscular dystrophy 2023-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501817 SCV002805903 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-08-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826376 SCV002092242 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2021-07-15 no assertion criteria provided clinical testing

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