ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8704C>T (p.Arg2902Trp)

gnomAD frequency: 0.00001  dbSNP: rs1188233243
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035307 SCV001198631 likely benign Duchenne muscular dystrophy 2023-10-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481840 SCV002794516 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-09-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001027929 SCV001190656 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-05-20 no assertion criteria provided clinical testing
Natera, Inc. RCV001271295 SCV001452373 uncertain significance Dystrophin deficiency 2020-09-16 no assertion criteria provided clinical testing

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