ClinVar Miner

Submissions for variant NM_173477.5(USH1G):c.832_851del (p.Ser278fs) (rs397515345)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000003050 SCV000782532 pathogenic Usher syndrome, type 1G 2016-11-28 criteria provided, single submitter clinical testing
OMIM RCV000003050 SCV000023208 pathogenic Usher syndrome, type 1G 2003-03-01 no assertion criteria provided literature only
GeneReviews RCV000003050 SCV000087060 pathologic Usher syndrome, type 1G 2013-06-20 no assertion criteria provided curation Converted during submission to Pathogenic.
GeneReviews RCV000216021 SCV000268763 pathogenic Usher syndrome type 1 2016-05-19 no assertion criteria provided literature only
Hereditary Research Laboratory, Bethlehem University RCV000003050 SCV000538130 pathogenic Usher syndrome, type 1G 2016-06-04 no assertion criteria provided research profound w/retinitis pigmentosum

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.