Submissions for variant NM_194248.3(OTOF):c.710+10C>T

gnomAD frequency: 0.00890  dbSNP: rs55639868

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041587	SCV000065282	benign	not specified	2012-03-20	criteria provided, single submitter	clinical testing	710+10C>T in exon 7 of OTOF: This variant is not expected to have clinical signi ficance because it is not located within the splice consensus sequence, has been identified in 1.4% (96/7020) of European American chromosomes and 0.2% (8/3738) of African American chromosomes in a broad population by the NHLBI Exome sequen cing project (http://evs.gs.washington.edu/EVS/; dbSNP rs55639868).
PreventionGenetics, part of Exact Sciences	RCV000041587	SCV000316872	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000992482	SCV000604580	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000041587	SCV000717920	likely benign	not specified	2017-12-08	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.
Athena Diagnostics Inc	RCV000992482	SCV001144828	benign	not provided	2019-02-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001141973	SCV001302361	uncertain significance	Autosomal recessive nonsyndromic hearing loss 9	2018-01-13	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV000992482	SCV002479940	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041587	SCV001958449	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000992482	SCV001974969	likely benign	not provided		no assertion criteria provided	clinical testing