Submissions for variant NM_004086.3(COCH):c.1055C>G (p.Thr352Ser)

gnomAD frequency: 0.51720  dbSNP: rs1045644

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000221727	SCV000268888	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Thr352Ser in Exon 11 of COCH: This variant is not expected to have clinical sign ificance because it has been identified in 37.1% (2602/7020) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs1045644).
PreventionGenetics, part of Exact Sciences	RCV000221727	SCV000306796	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000616871	SCV000386506	benign	Autosomal dominant 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	RCV000221727	SCV000730998	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000616871	SCV000745498	benign	Autosomal dominant nonsyndromic hearing loss 9	2015-09-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582722	SCV001821550	benign	Hearing loss, autosomal recessive 110	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000616871	SCV001821551	benign	Autosomal dominant nonsyndromic hearing loss 9	2021-07-22	criteria provided, single submitter	clinical testing
Invitae	RCV002054369	SCV002379780	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000616871	SCV000733377	benign	Autosomal dominant nonsyndromic hearing loss 9		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000221727	SCV001951041	benign	not specified		no assertion criteria provided	clinical testing