ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) (rs55921307)

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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 RCV000041713 SCV000065409 benign not specified 2012-03-20 criteria provided, single submitter clinical testing Tyr4031Tyr in exon 62 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, has been identified in 0.46% (32/7020) of Europ ean American chromosomes and 0.08% (3/3738) of African American chromosomes in a broad population by the NHLBI Exome sequencing project (http://evs.gs.washingto n.edu/EVS/; dbSNP rs55921307) and has been reported in cases (5/651 (0.7%)) and controls (9/4482 (0.2%)) with statistically insignificant differences in frequen cy (Dreyer 2008, McGee 2010, Yan 2009).
GeneDx RCV000041713 SCV000169766 benign not specified 2012-05-02 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 RCV000041713 SCV000231882 likely benign not specified 2015-02-20 criteria provided, single submitter clinical testing
Invitae RCV000949878 SCV001096150 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000949878 SCV001147665 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing

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