ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1143+12C>T (rs727505167)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156643 SCV000206364 likely benign not specified 2014-06-24 criteria provided, single submitter clinical testing 1143+12C>T in intron 6 of USH2A: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence, and it is not predicted to impact splicing.
Counsyl RCV000666853 SCV000791215 likely benign Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-05-03 criteria provided, single submitter clinical testing

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.