ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile)

gnomAD frequency: 0.00004  dbSNP: rs201951918
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001057430 SCV001221924 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482019 SCV002785032 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2021-12-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455257 SCV004182137 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001271139 SCV004182138 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890203 SCV004707869 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001271139 SCV001451993 uncertain significance Usher syndrome type 2A 2020-09-16 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.