ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.131G>A (p.Arg44Gln) (rs111425080)

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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 RCV000219313 SCV000269477 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Arg44Gln in exon 1 of OTOG: This variant is not expected to have clinical signif icance because it has been identified in 4.5% (8/176) of Yoruba (Nigerian) chrom osomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm. nih.gov/projects/SNP; dbSNP rs111425080).
GeneDx RCV000842053 SCV000984046 benign not provided 2018-06-04 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 RCV000842053 SCV001144834 benign not provided 2018-08-31 criteria provided, single submitter clinical testing

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