Submissions for variant NM_001292063.2(OTOG):c.2561+14G>A

gnomAD frequency: 0.37182  dbSNP: rs4756902

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000216507	SCV000269485	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	2597+14G>A in intron 20 of OTOG: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 43.3% (77/178) of English and Scottish chromosom es from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih. gov/projects/SNP; dbSNP rs4756902).
GeneDx	RCV001689748	SCV001906577	benign	not provided	2018-06-24	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001788077	SCV002029346	benign	Autosomal recessive nonsyndromic hearing loss 18B	2021-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001689748	SCV002384691	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001689748	SCV005316620	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000216507	SCV001744794	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000216507	SCV001955113	benign	not specified		no assertion criteria provided	clinical testing