Submissions for variant NM_000441.2(SLC26A4):c.1708-18T>A

gnomAD frequency: 0.02432  dbSNP: rs55701254

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Hearing Loss Variant Curation Expert Panel	RCV001171532	SCV001334317	benign	Pendred syndrome	2020-03-18	reviewed by expert panel	curation	The filtering allele frequency (the lower threshold of the 95% CI of 1456/25104) of the c.1708-18T>A variant in the SLC26A4 gene is 5.55% for European (Finnish) chromosomes by gnomAD v2.1.1, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BA1). This silent variant in SLC26A4 is not predicted by the computational prediction analysis using MaxEntScan to impact splicing (BP7, BP4). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: BA1, BP7, BP4.
PreventionGenetics, part of Exact Sciences	RCV000244473	SCV000304280	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000244473	SCV000861027	benign	not specified	2018-05-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001512980	SCV001159554	benign	not provided	2023-11-09	criteria provided, single submitter	clinical testing
Invitae	RCV001512980	SCV001720497	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001512980	SCV001943930	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23280318)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000244473	SCV002050890	benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001171532	SCV001459931	benign	Pendred syndrome	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000244473	SCV001924498	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000244473	SCV001955594	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001512980	SCV001968493	likely benign	not provided		no assertion criteria provided	clinical testing