ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.688G>A (p.Val230Met)

gnomAD frequency: 0.01191  dbSNP: rs45500891
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
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 RCV000041898 SCV000065594 benign not specified 2008-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000041898 SCV000169755 benign not specified 2013-01-07 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) RCV000041898 SCV000230492 benign not specified 2014-09-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000126255 SCV000884846 benign not provided 2023-11-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000126255 SCV001146620 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001097446 SCV001253728 uncertain significance Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV000126255 SCV001721096 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000041898 SCV002104144 likely benign not specified 2022-02-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000126255 SCV004042463 benign not provided 2024-02-01 criteria provided, single submitter clinical testing USH2A: BP4, BS1, BS2
Dept Of Ophthalmology, Nagoya University RCV003888405 SCV004708081 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Department of Ophthalmology and Visual Sciences Kyoto University RCV000126255 SCV000172668 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Natera, Inc. RCV001273813 SCV001457329 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.