ClinVar Miner

Submissions for variant NM_031475.3(ESPN):c.2369_2386del (p.Arg790_Arg795del)

dbSNP: rs1557720377
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 of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine RCV000680222 SCV000693917 pathogenic Usher syndrome type 1 2017-08-25 criteria provided, single submitter research
OMIM RCV000853554 SCV000996522 pathogenic Usher syndrome, type 1M 2022-07-25 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.