Submissions for variant NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)

gnomAD frequency: 0.01449  dbSNP: rs17154353

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036480	SCV000060135	benign	not specified	2010-09-16	criteria provided, single submitter	clinical testing	Gly740Ser in exon 19 of SLC26A4: This variant is not expected to have clinical s ignificance due a common occurrence in the general population (dbSNP - rs1715435 3).
Counsyl	RCV000169090	SCV000220273	likely benign	Pendred syndrome	2014-04-26	criteria provided, single submitter	literature only
Eurofins Ntd Llc (ga)	RCV000036480	SCV000345456	benign	not specified	2016-09-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000036480	SCV000730013	likely benign	not specified	2017-10-18	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	RCV000713336	SCV000843933	benign	not provided	2018-05-23	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000713336	SCV000884521	benign	not provided	2020-12-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000713336	SCV001123041	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001162821	SCV001324794	likely benign	Autosomal recessive nonsyndromic hearing loss 4	2017-04-28	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	RCV000169090	SCV001327064	benign	Pendred syndrome	2017-04-28	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000036480	SCV002050891	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496564	SCV002808624	benign	Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome	2022-05-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000713336	SCV003917548	benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	SLC26A4: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000713336	SCV005228509	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000713336	SCV001923589	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000036480	SCV001970971	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000169090	SCV002080028	benign	Pendred syndrome	2019-11-06	no assertion criteria provided	clinical testing