Submissions for variant NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=)

gnomAD frequency: 0.00205  dbSNP: rs144125797

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000214130	SCV000269550	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Gln1014Gln in exon 27 of OTOGL: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 4.6% (9/194) of Lu hya (Kenyan) chromosomes from a broad population by the 1000 Genomes Project (ht tp://www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs144125797).
GeneDx	RCV000731526	SCV000725480	likely benign	not provided	2021-01-12	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000731526	SCV000859357	uncertain significance	not provided	2018-02-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000731526	SCV001097690	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000731526	SCV004135505	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	OTOGL: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003977597	SCV004792340	likely benign	OTOGL-related disorder	2020-03-18	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).