Submissions for variant NM_024009.3(GJB3):c.357C>T (p.Asn119=)

gnomAD frequency: 0.07121  dbSNP: rs41310442

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039321	SCV000063005	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"Asn119Asn in Exon 02 of GJB3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 9.9% (370/3738) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs41310442)."
PreventionGenetics, part of Exact Sciences	RCV000039321	SCV000314224	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000367503	SCV000357299	benign	Erythrokeratodermia variabilis et progressiva 1	2018-01-12	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.
Eurofins Ntd Llc (ga)	RCV000039321	SCV000702318	benign	not specified	2016-10-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001610336	SCV001841197	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701729	SCV001933788	benign	Autosomal dominant nonsyndromic hearing loss 2B	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000367503	SCV001933789	benign	Erythrokeratodermia variabilis et progressiva 1	2021-08-10	criteria provided, single submitter	clinical testing
Invitae	RCV001610336	SCV002401184	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039321	SCV001918637	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039321	SCV001957305	benign	not specified		no assertion criteria provided	clinical testing