ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7747A>G (p.Thr2583Ala)

gnomAD frequency: 0.00008  dbSNP: rs773656507
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) RCV000179127 SCV000231325 uncertain significance not provided 2015-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000630500 SCV000751460 benign Duchenne muscular dystrophy 2024-08-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826914 SCV002087732 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-06-19 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.