ClinVar Miner

Submissions for variant NM_001277269.2(OTOG):c.[805G>A] (rs61978648)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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 (; 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.
Invitae RCV000965164 SCV001112424 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc 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

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