Submissions for variant NM_001292063.2(OTOG):c.2340G>A (p.Pro780=)

gnomAD frequency: 0.37391  dbSNP: rs4757548

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000216856	SCV000269482	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Pro792Pro in exon 19 of OTOG: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 43.3% (77/178) of En glish and Scottish chromosomes from a broad population by the 1000 Genomes Proje ct (http://www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs4757548).
GeneDx	RCV000216856	SCV000732277	benign	not specified	2017-05-09	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.
Genome-Nilou Lab	RCV001788075	SCV002029343	benign	Autosomal recessive nonsyndromic hearing loss 18B	2021-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002057079	SCV002404200	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002057079	SCV005316617	benign	not provided		criteria provided, single submitter	not provided