Submissions for variant NM_024009.3(GJB3):c.94C>T (p.Arg32Trp)

gnomAD frequency: 0.02177  dbSNP: rs1805063

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039325	SCV000063009	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Arg32Trp in Exon 02 of GJB3: This variant is not expected to have clinical signi ficance because it has been identified in 3.0% (211/7020) of European American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs1805063).
PreventionGenetics, part of Exact Sciences	RCV000039325	SCV000314229	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000039325	SCV000331725	benign	not specified	2016-06-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000755543	SCV000603837	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000755543	SCV001144065	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001099929	SCV001256422	benign	Erythrokeratodermia variabilis et progressiva 1	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000755543	SCV001939543	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25262649, 11175305, 12702148, 12165562, 24498627, 20981092, 10757647, 27884173, 10888284, 30245029, 29318123)
Invitae	RCV000755543	SCV002386360	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000755543	SCV002562912	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	GJB3: BS1, BS2
Clinical Genetics, Academic Medical Center	RCV000039325	SCV001923079	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000039325	SCV001963398	benign	not specified		no assertion criteria provided	clinical testing