ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3249T>A (p.Ile1083=)

gnomAD frequency: 0.00001  dbSNP: rs1235726996
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001498926 SCV001703680 likely benign Duchenne muscular dystrophy 2023-05-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827015 SCV002085474 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2021-01-26 no assertion criteria provided clinical testing

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