ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.12790G>A (p.Glu4264Lys) (rs200792578)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665011 SCV000789064 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-01-19 criteria provided, single submitter clinical testing
Invitae RCV000924302 SCV001069813 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073347 SCV001238887 uncertain significance Retinal dystrophy 2018-12-13 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.