ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4082-44G>A

gnomAD frequency: 0.17427  dbSNP: rs447102
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
Genome-Nilou Lab RCV001533663 SCV001750415 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001676033 SCV001895396 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001676033 SCV005280603 benign not provided criteria provided, single submitter not provided

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.