Submissions for variant NM_024009.3(GJB3):c.579C>T (p.Gly193=)

gnomAD frequency: 0.00526  dbSNP: rs61744512

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039322	SCV000063006	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"Gly193Gly 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 2.0% (73/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs61744512)."
Illumina Laboratory Services, Illumina	RCV000298991	SCV000357312	benign	Erythrokeratodermia variabilis et progressiva 1	2018-01-13	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	RCV000884380	SCV000726570	benign	not provided	2019-09-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15131355)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000884380	SCV001027755	benign	not provided	2024-12-19	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496626	SCV002807454	likely benign	Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 2B; Erythrokeratodermia variabilis et progressiva 1	2021-07-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000884380	SCV005285098	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000039322	SCV001917790	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039322	SCV001970703	benign	not specified		no assertion criteria provided	clinical testing