Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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). |
Gene |
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 |
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- |
RCV001254782 | SCV001167196 | uncertain significance | Meniere disease | 2020-01-01 | criteria provided, single submitter | case-control | |
Prevention |
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). |