ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8028G>A (p.Arg2676=)

gnomAD frequency: 0.00001  dbSNP: rs1237546420
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734423 SCV000862564 uncertain significance not provided 2018-07-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001036336 SCV001199693 likely benign Duchenne muscular dystrophy 2024-03-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830638 SCV002087713 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-12-07 no assertion criteria provided clinical testing

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