ClinVar Miner

Submissions for variant NM_000109.4(DMD):c.7547G>A (p.Arg2516His) (rs151244052)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252404 SCV000319950 benign Cardiovascular phenotype 2018-03-15 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Other data supporting benign classification;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000434520 SCV000515978 likely benign not specified 2016-03-07 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.
Invitae RCV000990616 SCV000560803 likely benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000434520 SCV000603349 benign not specified 2017-04-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000434520 SCV000705594 likely benign not specified 2017-03-03 criteria provided, single submitter clinical testing
Mendelics RCV000990616 SCV001141632 benign Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148463 SCV000190162 likely benign Muscular dystrophy 2014-06-01 no assertion criteria provided research

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