Submissions for variant NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr)

gnomAD frequency: 0.00452  dbSNP: rs111033338

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038709	SCV000062387	benign	not specified	2011-11-03	criteria provided, single submitter	clinical testing	Ser199Thr in exon 3 of the GJB6 gene: This variant is not expected to have clini cal significance because it was found at equal frequency in individuals with hea ring loss and controls (Kelley 1999, Libby 2008, Carlsson 2007, rs111033338).
Eurofins Ntd Llc (ga)	RCV000038709	SCV000229106	benign	not specified	2015-03-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088010	SCV000646418	benign	Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromic hearing loss 3B; Hidrotic ectodermal dysplasia syndrome	2024-01-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000543942	SCV001148930	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	GJB6: BS2
Illumina Laboratory Services, Illumina	RCV001110052	SCV001267438	likely benign	Hidrotic ectodermal dysplasia 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000543942	SCV001861315	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000543942	SCV002506046	benign	not provided	2023-10-23	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000543942	SCV005219307	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000543942	SCV001741394	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000543942	SCV001956379	likely benign	not provided		no assertion criteria provided	clinical testing