ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.5203C>T (p.Arg1735Cys) (rs147904018)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000396354 SCV000334980 likely benign not specified 2015-09-18 criteria provided, single submitter clinical testing
Invitae RCV000469017 SCV000560841 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617311 SCV000736765 likely benign Cardiovascular phenotype 2019-08-29 criteria provided, single submitter clinical testing Other strong data supporting benign classification

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.