ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.5899C>T (p.Arg1967Ter) (rs128626249)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000711463 SCV000112577 pathogenic not provided 2017-10-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711463 SCV000841831 pathogenic not provided 2017-09-19 criteria provided, single submitter clinical testing
OMIM RCV000012009 SCV000032243 pathogenic Duchenne muscular dystrophy 1993-01-01 no assertion criteria provided literature only
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000012009 SCV000747826 uncertain significance Duchenne muscular dystrophy 2017-11-30 no assertion criteria provided clinical testing The observed variant c.5899C>T (p.Arg1967Ter) is not reported in 1000 Genomes and its minor allele frequency in ExAC databases is 0.00001328. The in silico prediction of the variant is disease causing by MutationTaster2.

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.