ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) (rs34596189)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152625 SCV000201938 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Gly1132Asp in Exon 17 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (27/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs34596189).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152625 SCV000854892 likely benign not specified 2017-11-07 criteria provided, single submitter clinical testing
Invitae RCV000894588 SCV001038583 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001100644 SCV001257173 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001100645 SCV001257174 likely benign Usher syndrome, type 2A 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504687 SCV000598806 uncertain significance Usher syndrome 2015-01-01 no assertion criteria provided research

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