Submissions for variant NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)

gnomAD frequency: 0.04399  dbSNP: rs17154335

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036461	SCV000060116	benign	not specified	2008-04-23	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000036461	SCV000340569	benign	not specified	2016-04-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000317486	SCV000466101	likely benign	Autosomal recessive nonsyndromic hearing loss 4	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000374325	SCV000466102	likely benign	Pendred syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000713334	SCV000514667	likely benign	not provided	2021-05-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20981092, 27884173, 29739340, 22116359, 15689455, 19017801, 22389666, 25262649, 23273637, 30245029, 26886089, 23280318, 19204907, 30068397, 31656273)
Athena Diagnostics Inc	RCV000713334	SCV000843931	benign	not provided	2018-05-23	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000713334	SCV000884520	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV000713334	SCV001718048	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000036461	SCV002050892	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496563	SCV002808653	likely benign	Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome	2022-05-06	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036461	SCV001925270	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036461	SCV001955917	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000036461	SCV001975618	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000374325	SCV002080011	benign	Pendred syndrome	2019-11-13	no assertion criteria provided	clinical testing