Submissions for variant NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)

gnomAD frequency: 0.00129  dbSNP: rs76838169

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000037867	SCV000112276	benign	not specified	2012-12-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000505516	SCV000382992	benign	Autosomal recessive nonsyndromic hearing loss 1A	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. 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.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000505516	SCV000599764	benign	Autosomal recessive nonsyndromic hearing loss 1A	2017-05-09	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711353	SCV000841711	benign	not provided	2018-03-13	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000711353	SCV000883942	benign	not provided	2021-04-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000711353	SCV001032166	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000711353	SCV001868808	benign	not provided	2018-10-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31195736, 30245029, 26215685, 27534436, 29605365, 26043044, 25388846, 19043807, 11438992, 20668687, 23967136, 19707039, 20981092, 23826813, 22613756, 20497192, 15479191, 25262649, 23638949)
Fulgent Genetics, Fulgent Genetics	RCV002482994	SCV002799414	benign	Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A; X-linked mixed hearing loss with perilymphatic gusher	2022-05-09	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037867	SCV000061529	benign	not specified	2008-06-23	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000505516	SCV001453868	benign	Autosomal recessive nonsyndromic hearing loss 1A	2020-04-17	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037867	SCV001954235	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037867	SCV001968101	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541113	SCV004800717	benign	GJB2-related disorder	2020-04-12	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).