ClinVar Miner

Submissions for variant NM_001277269.2(OTOG):c.[4642C>T] (rs117380920)

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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 RCV000217004 SCV000269508 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Leu1548Phe in exon 35 of OTOG: This variant is not expected to have clinical sig nificance because it has been identified in 4.2% (5/120) of Colombian chromosome s from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.g ov/projects/SNP; dbSNP rs117380920).
GeneDx RCV000217004 SCV000718115 likely benign not specified 2017-09-22 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.
Athena Diagnostics Inc RCV000992489 SCV001144843 benign not provided 2018-09-20 criteria provided, single submitter clinical testing

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