Submissions for variant NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)

gnomAD frequency: 0.00669  dbSNP: rs7811324

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036450	SCV000060105	benign	not specified	2012-08-24	criteria provided, single submitter	clinical testing	Gly5Gly in exon 2 of SLC26A4: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, has been identified in 1.4% (54/3922) of African American chromosomes from a broad population by the NHLBI Exome sequencing proje ct (http://evs.gs.washington.edu/EVS/).
GeneDx	RCV000956517	SCV000721595	benign	not provided	2019-12-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29739340, 23280318)
Counsyl	RCV000674869	SCV000800273	likely benign	Pendred syndrome	2018-05-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000036450	SCV000859388	benign	not specified	2018-02-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000956517	SCV001103283	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000956517	SCV001145685	benign	not provided	2019-02-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000674869	SCV001324483	uncertain significance	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001164582	SCV001326715	uncertain significance	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab	RCV001164582	SCV002026697	likely benign	Autosomal recessive nonsyndromic hearing loss 4	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000674869	SCV002027006	likely benign	Pendred syndrome	2021-09-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000956517	SCV005093355	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SLC26A4: BP4, BP7, BS1, BS2; SLC26A4-AS1: BS1, BS2
Natera, Inc.	RCV000674869	SCV002079956	benign	Pendred syndrome	2019-10-18	no assertion criteria provided	clinical testing