Submissions for variant NM_194248.3(OTOF):c.2215-19C>G

gnomAD frequency: 0.00434  dbSNP: rs111033427

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041484	SCV000065179	benign	not specified	2013-06-13	criteria provided, single submitter	clinical testing	p.Thr42Thr in exon 1A of OTOF: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.7% (57/8531) of Eur opean American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs. washington.edu/EVS/; dbSNP rs111033427).
Eurofins Ntd Llc (ga)	RCV000041484	SCV000335419	benign	not specified	2015-10-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001533535	SCV000723959	benign	not provided	2019-01-06	criteria provided, single submitter	clinical testing
Invitae	RCV001533535	SCV002388453	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001533535	SCV004011133	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	OTOF: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV003914999	SCV004728995	likely benign	OTOF-related condition	2020-01-22	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).