ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5933G>A (p.Arg1978His)

dbSNP: rs148135406
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000274771 SCV000344664 uncertain significance not provided 2016-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082959 SCV000560873 likely benign Duchenne muscular dystrophy 2024-12-24 criteria provided, single submitter clinical testing
GeneDx RCV000274771 SCV001938945 benign not provided 2021-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356394 SCV002653960 likely benign Cardiovascular phenotype 2019-12-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001835768 SCV002093441 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-08-02 no assertion criteria provided clinical testing

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