ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8999G>A (p.Arg3000His)

gnomAD frequency: 0.00002  dbSNP: rs772695216
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
Eurofins Ntd Llc (ga) RCV000323204 SCV000338820 uncertain significance not provided 2016-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001454556 SCV001658286 likely benign Duchenne muscular dystrophy 2024-10-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828218 SCV002080205 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-09-26 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.