Submissions for variant NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=)

gnomAD frequency: 0.00782  dbSNP: rs77407094

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036443	SCV000060098	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"Leu496Leu in Exon 13 of SLC26A4: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 2.6% (97/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs77407094)."
Counsyl	RCV000169380	SCV000220769	likely benign	Pendred syndrome	2014-10-17	criteria provided, single submitter	literature only
GeneDx	RCV000956519	SCV000718118	benign	not provided	2019-05-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21704276, 17146393)
Invitae	RCV000956519	SCV001103285	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000169380	SCV001324682	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.
Illumina Laboratory Services, Illumina	RCV001162718	SCV001324683	likely benign	Autosomal recessive nonsyndromic hearing loss 4	2017-11-20	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000956519	SCV003799694	benign	not provided	2022-07-15	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036443	SCV001923481	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000036443	SCV001969649	benign	not specified		no assertion criteria provided	clinical testing