Submissions for variant NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser)

gnomAD frequency: 0.00378  dbSNP: rs35045430

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Hearing Loss Variant Curation Expert Panel	RCV000710318	SCV000840504	benign	Pendred syndrome	2018-09-28	reviewed by expert panel	curation	The filtering allele frequency of the p.Ala1898Ser variant in the SLC26A4 gene is 1.2% (324/24040) of African chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org; calculated by using inverse allele frequency at https://www.cardiodb.org/allelefrequencyapp/), 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).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036497	SCV000060152	benign	not specified	2011-11-14	criteria provided, single submitter	clinical testing	Ala189Ser in exon 5 of SLC26A4: This variant is not expected to have clinical si gnificance because it has been identified in 0.38% (25/6628) of chromosomes from a broad population (dbSNP rs35045430).
Eurofins Ntd Llc (ga)	RCV000036497	SCV000340847	benign	not specified	2016-05-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000901389	SCV000730012	benign	not provided	2019-04-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25262649, 17309986, 27771369, 30245029, 30068397)
Invitae	RCV000901389	SCV001045757	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000901389	SCV004701301	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SLC26A4: BS1, BS2
Natera, Inc.	RCV000710318	SCV001459860	benign	Pendred syndrome	2020-01-02	no assertion criteria provided	clinical testing