ClinVar Miner

Submissions for variant NM_001277269.2(OTOG):c.8726G>C (rs11024357)

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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 RCV000217978 SCV000269537 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Trp2909Ser in exon 55 of OTOG: This variant is not expected to have clinical sig nificance because it has been identified in 32.1% (9/28) of Spanish (Iberian) ch romosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.n; dbSNP rs11024357).
GeneDx RCV000217978 SCV000717164 benign not specified 2017-08-03 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.
Nilou-Genome Lab RCV001421026 SCV001623500 benign Deafness, autosomal recessive 18b 2021-05-18 criteria provided, single submitter clinical testing

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