ClinVar Miner

Submissions for variant NC_000023.11:g.(?_32448446)_(32565891_?)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
Invitae RCV001032588 SCV001195895 uncertain significance Duchenne muscular dystrophy 2019-09-04 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 16-27 of the DMD gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number gain of exons 16-27 has been observed in an individual affected with Becker muscular dystrophy (PMID: 22776072). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, 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.