ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1464C>T (p.Arg488=)

gnomAD frequency: 0.00001  dbSNP: rs771891715
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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 RCV001442567 SCV001645518 likely benign Duchenne muscular dystrophy 2025-01-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832566 SCV002090367 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2021-07-21 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004540338 SCV004762798 likely benign DMD-related disorder 2019-11-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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