ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11927C>T (p.Thr3976Met) (rs142381713)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000041707 SCV000605543 uncertain significance not specified 2016-11-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725418 SCV000336817 uncertain significance not provided 2015-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000041707 SCV000730477 likely benign not specified 2018-02-26 no assertion criteria provided 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041707 SCV000065403 likely benign not specified 2016-05-05 criteria provided, single submitter clinical testing p.Thr3976Met in exon 61 of USH2A: This variant is not expected to have clinical significance because it occurs in cis with a pathogenic variant in one individua l with Usher syndrome (Baux 2007, Le Guedard-Mereuze 2010). It has been identifi ed in 0.1% (56/66702) of European chromosomes by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org; dbSNP rs142381713).

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