ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.7472A>G (p.Gln2491Arg) (rs147694734)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183378 SCV000235820 benign not specified 2016-12-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000183378 SCV000331601 likely benign not specified 2015-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618151 SCV000736505 benign Cardiovascular phenotype 2018-10-23 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV001084240 SCV000751592 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000630627 SCV001143753 benign not provided 2018-12-03 criteria provided, single submitter clinical testing

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