ClinVar Miner

Submissions for variant NM_006383.4(CIB2):c.192G>C (p.Glu64Asp) (rs145415848)

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
OMIM RCV000032890 SCV000056661 pathogenic Usher syndrome, type 1J 2012-11-01 no assertion criteria provided literature only
GeneReviews RCV000032890 SCV000086946 pathologic Usher syndrome, type 1J 2013-06-20 no assertion criteria provided curation Converted during submission to Pathogenic.
GeneReviews RCV000223233 SCV000268765 pathogenic Usher syndrome type 1 2016-05-19 no assertion criteria provided literature only

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.