ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10248G>C (p.Trp3416Cys)

gnomAD frequency: 0.00002  dbSNP: rs376745644
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049807 SCV001213879 likely benign Duchenne muscular dystrophy 2022-10-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827312 SCV002077611 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-11-23 no assertion criteria provided clinical testing

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