ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14817G>A (p.Ser4939=)

gnomAD frequency: 0.00001  dbSNP: rs397517992
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
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 RCV000041769 SCV000065465 likely benign not specified 2012-04-11 criteria provided, single submitter clinical testing Ser4939Ser in exon 68 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
Counsyl RCV000666105 SCV000790346 likely benign Usher syndrome type 2A; Retinitis pigmentosa 39 2017-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001372368 SCV001569012 likely benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450798 SCV004182912 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450797 SCV004182923 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004814976 SCV005070194 likely benign Retinal dystrophy 2013-01-01 no assertion criteria provided 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.