ClinVar Miner

Submissions for variant NC_000023.11:g.(?_31819965)_(31932237_?)del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792776 SCV000932096 pathogenic Duchenne muscular dystrophy 2019-12-26 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 46-50 of the DMD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants, including gross deletions, in DMD are known to be pathogenic. This particular deletion has been reported in the literature in individuals affected with Duchenne or Becker muscular dystrophy (PMID: 22090376, 12324874, 19449031, 18663755). For these reasons, this variant has been classified as Pathogenic.

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.