ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.273C>T (p.Ser91=) (rs11823045)

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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 RCV000220757 SCV000269486 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ser91Ser in exon 3 of OTOG: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 45.4% (88/194) of Luhy a (Kenyan) chromosomes from a broad population by the 1000 Genomes Project (http ://www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs11823045).
GeneDx RCV000220757 SCV000717159 benign not specified 2017-10-05 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 RCV000712481 SCV000842982 benign not provided 2018-05-23 criteria provided, single submitter clinical testing

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