ClinVar Miner

Submissions for variant NM_001277269.2(OTOG):c.[7667G>A] (rs76461792)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000215655 SCV000270681 likely benign not specified 2017-06-06 criteria provided, single submitter clinical testing p.Arg2556Gln in exon 45 of OTOG: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (292/61730) of European chrom osomes, including 1 homozygote, by the Genome Aggregation Database (gnomAD, http ://gnomad.broadinstitute.org; dbSNP rs76461792).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000215655 SCV000705011 likely benign not specified 2017-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000215655 SCV000717858 likely benign not specified 2017-11-14 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.
Otology & Neurotology- Genomics of vestibular disorders (CTS-495),Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO) RCV001254788 SCV001167202 uncertain significance Meniere disease 2020-01-01 criteria provided, single submitter case-control

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