ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10696C>T (p.Arg3566Cys)

gnomAD frequency: 0.00001  dbSNP: rs750800262
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055813 SCV001220222 likely benign Duchenne muscular dystrophy 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832506 SCV002077592 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2021-01-26 no assertion criteria provided clinical testing

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