Submissions for variant NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)

gnomAD frequency: 0.00450  dbSNP: rs111033304

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036511	SCV000060166	benign	not specified	2011-06-21	criteria provided, single submitter	clinical testing	Ile300Leu in exon 7 of SLC26A4: This variant is predicted to be benign because i t has been identified in 1.3% (140/10384) of African chromosomes including 3 hom ozygotes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs111033304).
Counsyl	RCV000169080	SCV000220252	likely benign	Pendred syndrome	2014-04-26	criteria provided, single submitter	literature only
GeneDx	RCV000888731	SCV000730595	benign	not provided	2018-11-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25394566, 23617710, 21045265, 23280318, 30245029)
Invitae	RCV000888731	SCV001032384	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000888731	SCV001145689	likely benign	not provided	2018-11-14	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000036511	SCV002069841	benign	not specified	2017-10-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496566	SCV002810851	likely benign	Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome	2022-01-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000888731	SCV004155764	benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	SLC26A4: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV004541097	SCV004766810	benign	SLC26A4-related disorder	2019-07-24	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc.	RCV000169080	SCV001459862	benign	Pendred syndrome	2020-01-01	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000888731	SCV001954409	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000036511	SCV001964619	benign	not specified		no assertion criteria provided	clinical testing