ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11602A>G (p.Met3868Val)

dbSNP: rs35309576
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
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 RCV000041699 SCV000065395 benign not specified 2008-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000041699 SCV000169761 benign not specified 2013-08-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000041699 SCV000231853 benign not specified 2014-06-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000041699 SCV000317188 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517696 SCV001726254 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001271134 SCV001748495 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483031 SCV002803390 benign Usher syndrome type 2A; Retinitis pigmentosa 39 2021-10-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000041699 SCV003928752 likely benign not specified 2023-04-16 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003887883 SCV004707860 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001517696 SCV005287616 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001271134 SCV001451986 benign 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.