Submissions for variant NM_001292063.2(OTOG):c.4606C>T (p.Leu1536Phe)

gnomAD frequency: 0.00806  dbSNP: rs117380920

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217004	SCV000269508	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Leu1548Phe in exon 35 of OTOG: This variant is not expected to have clinical sig nificance because it has been identified in 4.2% (5/120) of Colombian chromosome s from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.g ov/projects/SNP; dbSNP rs117380920).
GeneDx	RCV000992489	SCV000718115	benign	not provided	2019-04-23	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000992489	SCV001144843	benign	not provided	2018-09-20	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)	RCV001254786	SCV001167200	likely benign	Meniere disease	2020-01-01	criteria provided, single submitter	case-control
Labcorp Genetics (formerly Invitae), Labcorp	RCV000992489	SCV002443981	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000992489	SCV004136055	benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	OTOG: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000992489	SCV005221432	likely benign	not provided		criteria provided, single submitter	not provided