ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10160C>T (p.Ala3387Val)

gnomAD frequency: 0.00001  dbSNP: rs202219782
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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 RCV001517414 SCV001725902 benign Duchenne muscular dystrophy 2024-10-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222331 SCV003917768 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing DMD: PP3, BS2
Natera, Inc. RCV001832699 SCV002077618 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2021-06-29 no assertion criteria provided clinical testing

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