ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9959-2A>G

dbSNP: rs1661946523
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
Baylor Genetics RCV003463058 SCV004206364 likely pathogenic Retinitis pigmentosa 39 2022-12-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701217 SCV001917796 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701217 SCV001951083 pathogenic not provided no assertion criteria provided 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.