ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12088C>T (p.Leu4030=)

gnomAD frequency: 0.00010  dbSNP: rs141528682
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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 RCV000155320 SCV000205006 likely benign not specified 2015-12-17 criteria provided, single submitter clinical testing p.Leu4030Leu in Exon 62 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, and it is not loca ted within the splice consensus sequence. It has been identified in 26/66698 Eu ropean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs141528682).
GeneDx RCV000910810 SCV000516142 likely benign not provided 2020-07-20 criteria provided, single submitter clinical testing
Invitae RCV000910810 SCV001055858 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453167 SCV004182048 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453166 SCV004182049 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.