ClinVar Miner

Submissions for variant NM_001277269.2(OTOG):c.[4058G>A] (rs145689709)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216051 SCV000269505 benign not specified 2015-08-24 criteria provided, single submitter clinical testing p.Arg1353Gln in exon 32 of OTOG: This variant is not expected to have clinical s ignificance because it has been identified in 0.56% (29/5214) of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs145689709).
GeneDx RCV000844405 SCV000986456 likely benign not provided 2018-03-23 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.
Invitae RCV000844405 SCV001102131 likely benign not provided 2018-10-16 criteria provided, single submitter clinical testing

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