ClinVar Miner

Submissions for variant NM_024009.3(GJB3):c.798C>T (p.Asn266=)

gnomAD frequency: 0.09056  dbSNP: rs35983826
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039324 SCV000063008 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Asn266Asn 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 10.1% (712/7020) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs35983826)."
Eurofins Ntd Llc (ga) RCV000039324 SCV000227518 benign not specified 2015-04-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000039324 SCV000314228 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000270487 SCV000357320 benign Erythrokeratodermia variabilis et progressiva 1 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV001636628 SCV001848192 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV001636628 SCV002473354 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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