ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.1976C>T (p.Thr659Met) (rs7112749)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000214640 SCV000269479 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr659Met in exon 16 of OTOG: This variant is not expected to have clinical sign ificance because it has been identified in 10.3% (20/194) of Luhya (Kenyan) chro mosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm .nih.gov/projects/SNP; dbSNP rs7112749).
GeneDx RCV000214640 SCV000717833 benign not specified 2017-05-09 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.

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