ClinVar Miner

Submissions for variant NM_206933.2(USH2A):c.(?_1645)_(1840_?)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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155414 SCV000205104 pathogenic Rare genetic deafness 2012-06-09 criteria provided, single submitter clinical testing The (?_1645)_(1840_?)del variant in USH2A has not been reported in the literatur e nor previously identified by our laboratory. This variant is a deletion of exo n 10 of USH2A and is predicted to result in an absent or truncated protein. Seve ral large deletions that span one or more exons of the USH2A gene have been repo rted in probands affected with Usher syndrome type II (Bernal 2005, Baux 2007, D reyer 2008, Stabej 2012). In summary, this variant meets our classification to b e 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.