ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10749A>C (p.Ala3583=)

dbSNP: rs747834026
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 RCV001195478 SCV001365855 likely benign not specified 2019-11-06 criteria provided, single submitter clinical testing The p.Ala3583Ala variant in USH2A is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. ACMG/AMP Criteria applied: BP4, BP7.
Invitae RCV002071846 SCV002370176 likely benign not provided 2023-11-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449632 SCV004182179 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449631 SCV004182181 likely benign Usher syndrome type 2A 2023-11-04 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.