ClinVar Miner

Submissions for variant NC_000023.10:g.(?_118986730)_(119603030_?)dup

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
Labcorp Genetics (formerly Invitae), Labcorp RCV000258048 SCV000328219 uncertain significance Danon disease 2016-01-06 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the DMD gene has been identified. This gross duplication is not present in population databases. A similar DMD whole gene duplication has been reported in the literature in an individual affected with Duchenne muscular dystrophy and mild intelectual disability (PMID: 22796527). In summary, this is a whole gene duplication with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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.