ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2828G>A (p.Arg943His)

gnomAD frequency: 0.00002  dbSNP: rs398123911
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723655 SCV000112430 uncertain significance not provided 2013-08-06 criteria provided, single submitter clinical testing
GeneDx RCV000723655 SCV000720665 likely benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512615 SCV001720061 benign Duchenne muscular dystrophy 2024-12-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826739 SCV002089666 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-07-30 no assertion criteria provided clinical testing

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