ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6958-5C>T

gnomAD frequency: 0.00010  dbSNP: rs147914083
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 RCV000041899 SCV000065595 likely benign not specified 2013-01-30 criteria provided, single submitter clinical testing 6958-5C>T in intron 36 of USH2A: This variant is not expected to have clinical s ignificance because it has been identified in 1.3% (5/394) of Chinese chromosome s by the 1000 Genomes Project (1000Genomes; dbSNP rs147914083).
Invitae RCV000931400 SCV001077066 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445129 SCV004172086 likely benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445128 SCV004172087 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.