Submissions for variant NM_001277269.2(OTOG):c.[3719C>T] (rs117005078)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000214949	SCV000272248	benign	not specified	2017-06-13	criteria provided, single submitter	clinical testing	p.Pro1240Leu in exon 30 of OTOG: This variant is not expected to have clinical significance because it has been identified in 0.6% (384/67268) of European chro mosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute .org; dbSNP rs117005078). Furthermore, this variant has been reported by our la boratory in 10 individuals with hearing loss, including 4 with an alternate gene tic etiology identified.
GeneDx	RCV000969361	SCV000618434	benign	not provided	2019-06-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30097855)
Invitae	RCV000969361	SCV001116873	likely benign	not provided	2020-11-27	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000969361	SCV001144840	likely benign	not provided	2018-09-12	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)	RCV001254784	SCV001167198	uncertain significance	Meniere disease	2020-01-01	criteria provided, single submitter	case-control