ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.769G>A (p.Val257Ile)

gnomAD frequency: 0.02169  dbSNP: rs61978648
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215874 SCV000269528 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Val269Ile in exon 7 of OTOG: This variant is not expected to have clinical signi ficance because it has been identified in 7.4% (13/176) of Yoruba (Nigerian) chr omosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nl m.nih.gov/projects/SNP; dbSNP rs61978648).
GeneDx RCV000215874 SCV000717992 benign not specified 2018-02-26 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000965164 SCV001112424 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000965164 SCV001144849 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
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) RCV001254782 SCV001167196 uncertain significance Meniere disease 2020-01-01 criteria provided, single submitter case-control
PreventionGenetics, part of Exact Sciences RCV003982960 SCV004796717 benign OTOG-related disorder 2019-08-01 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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