ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1603-6C>T

gnomAD frequency: 0.00004  dbSNP: rs774626474
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594742 SCV000705290 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080417 SCV001031107 likely benign Duchenne muscular dystrophy 2024-10-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829653 SCV002090346 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2021-03-08 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004530689 SCV004738325 likely benign DMD-related disorder 2020-02-25 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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