ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.3395G>A (p.Gly1132Asp) (rs34596189)

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Total submissions: 4
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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 2019-02-19 criteria provided, single submitter clinical testing
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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