ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5572+15G>A

gnomAD frequency: 0.01200  dbSNP: rs17026052
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
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 RCV000041860 SCV000065556 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 5572+15G>A in Intron 27 of USH2A: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 3.8% (142/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS; dbSNP rs17026052).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001509713 SCV001477665 benign not provided 2022-03-31 criteria provided, single submitter clinical testing
Invitae RCV001509713 SCV001716564 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001509713 SCV001867156 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496666 SCV002805246 benign Usher syndrome type 2A; Retinitis pigmentosa 39 2021-09-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445124 SCV004172121 benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445123 SCV004172123 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.