Submissions for variant NM_194248.3(OTOF):c.2736G>C (p.Leu912=)

gnomAD frequency: 0.56927  dbSNP: rs4335905

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041509	SCV000065204	benign	not specified	2007-03-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000041509	SCV000316856	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000021051	SCV000429616	benign	Autosomal recessive nonsyndromic hearing loss 9	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000041509	SCV000717013	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811194	SCV001156863	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000021051	SCV002029332	benign	Autosomal recessive nonsyndromic hearing loss 9	2021-09-05	criteria provided, single submitter	clinical testing
Invitae	RCV001811194	SCV002333792	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneReviews	RCV000021051	SCV000041706	not provided	Autosomal recessive nonsyndromic hearing loss 9		no assertion provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000041509	SCV001744765	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041509	SCV001952429	benign	not specified		no assertion criteria provided	clinical testing