Submissions for variant NM_001277269.2(OTOG):c.[8526G>C] (rs61997203)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000222078	SCV000269535	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Lys2842Asn in exon 54 of OTOG: This variant is not expected to have clinical sig nificance because it has been identified in 3.8% (7/186) of Finnish chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov /projects/SNP; dbSNP rs61997203).
GeneDx	RCV000222078	SCV000717128	likely benign	not specified	2017-12-22	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	RCV000958387	SCV001105224	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000958387	SCV001144850	benign	not provided	2019-03-15	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)	RCV001254790	SCV001167204	likely benign	Ménière's disease	2020-01-01	criteria provided, single submitter	case-control