ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) (rs56056328)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041944 SCV000065640 benign not specified 2012-06-26 criteria provided, single submitter clinical testing Glu3088Lys in exon 47 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (47/7020) of European American chromosomes and 0.2% (7/3738) of African American chromosomes from a broad popu lation by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; (rs56056328). It addition, it occurrs at an equal frequency in cases and contro ls (McGee 2010; Dreyer 2008).
GeneDx RCV000041944 SCV000169753 benign not specified 2013-12-18 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 RCV000041944 SCV000230763 benign not specified 2015-04-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585414 SCV000692664 likely benign not provided 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV000585414 SCV001111707 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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