ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5706C>A (p.Ser1902Arg)

gnomAD frequency: 0.00001  dbSNP: rs752774864
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000329015 SCV000345129 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001231485 SCV001404011 likely benign Duchenne muscular dystrophy 2025-01-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000329015 SCV003829562 uncertain significance not provided 2019-02-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833409 SCV002093466 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-05-07 no assertion criteria provided clinical testing

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.