ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
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 General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Other data supporting benign classification;Subpopulation frequency in support of benign classification
GeneDx RCV001704073 SCV000515978 likely benign not provided 2021-06-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24055113, 21515508, 25637381)
Invitae RCV000990616 SCV000560803 likely benign Duchenne muscular dystrophy 2020-12-04 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
Genetics and Genomics Program,Sidra Medicine RCV001293115 SCV001434105 likely benign Primary dilated cardiomyopathy criteria provided, single submitter research
CSER _CC_NCGL, University of Washington RCV000148463 SCV000190162 likely benign Muscular dystrophy 2014-06-01 no assertion criteria provided research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.