Submissions for variant NM_001292063.2(OTOG):c.8369G>A (p.Arg2790His)

gnomAD frequency: 0.00188  dbSNP: rs117315845

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217789	SCV000269534	benign	not specified	2015-09-08	criteria provided, single submitter	clinical testing	p.Arg2802His in exon 52 of OTOG: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (54/14664) of chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 117315845).
GeneDx	RCV000966390	SCV000727945	likely benign	not provided	2021-06-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000966390	SCV001113706	benign	not provided	2024-12-26	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)	RCV001254789	SCV001167203	uncertain significance	Meniere disease	2020-01-01	criteria provided, single submitter	case-control
CeGaT Center for Human Genetics Tuebingen	RCV000966390	SCV001502033	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	OTOG: BP4