ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5776+7T>G

gnomAD frequency: 0.00001  dbSNP: rs397518020
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041867 SCV000065563 likely benign not specified 2013-02-01 criteria provided, single submitter clinical testing 5776+7 T>G in Intron 28 of USH2A: This variant is not expected to have clinical significance because it is not located within the conserved region of the splice consensus sequence.
Invitae RCV000982275 SCV001130289 likely benign not provided 2023-09-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445126 SCV004172116 likely benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445125 SCV004172117 likely benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter 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.