ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.688G>A (p.Val230Met) (rs45500891)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041898 SCV000230492 benign not specified 2014-09-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283568 SCV000884846 benign none provided 2020-04-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000126255 SCV001146620 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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 2020-12-05 criteria provided, single submitter clinical testing
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

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