Submissions for variant NM_001292063.2(OTOG):c.8690G>C (p.Trp2897Ser)

gnomAD frequency: 0.19620  dbSNP: rs11024357

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217978	SCV000269537	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Trp2909Ser in exon 55 of OTOG: This variant is not expected to have clinical sig nificance because it has been identified in 32.1% (9/28) of Spanish (Iberian) ch romosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.n lm.nih.gov/projects/SNP; dbSNP rs11024357).
GeneDx	RCV000217978	SCV000717164	benign	not specified	2017-08-03	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	RCV001421026	SCV001623500	benign	Autosomal recessive nonsyndromic hearing loss 18B	2021-05-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002057088	SCV002442199	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002057088	SCV005317643	benign	not provided		criteria provided, single submitter	not provided