Submissions for variant NM_001378609.3(OTOGL):c.6247A>G (p.Ile2083Val)

gnomAD frequency: 0.94190  dbSNP: rs2034528

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000219383	SCV000269580	benign	not specified	2015-11-11	criteria provided, single submitter	clinical testing	Ile2074Val in exon 51 of OTOGL: This variant is not expected to have clinical si gnificance because it has been identified in 7.6% (641/8456) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs2034528).
GeneDx	RCV000219383	SCV000717024	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054404	SCV002341438	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002054404	SCV005231931	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000219383	SCV001742083	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000219383	SCV001959631	benign	not specified		no assertion criteria provided	clinical testing