ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.188G>A (p.Arg63Gln) (rs372497947)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177238 SCV000229081 uncertain significance not provided 2015-01-05 criteria provided, single submitter clinical testing
Counsyl RCV000666825 SCV000791183 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-05-01 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.