ClinVar Miner

Submissions for variant NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp)

gnomAD frequency: 0.00582  dbSNP: rs80297119
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Total submissions: 7
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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 RCV000155096 SCV000204780 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Tyr177Asp in Exon 02 of GJB3: This variant is not expected to have clinical sign ificance because it has been identified in 1.8% (67/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs80297119).
Eurofins Ntd Llc (ga) RCV000155096 SCV000341820 benign not specified 2016-05-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000338988 SCV000357307 likely benign Erythrokeratodermia variabilis et progressiva 1 2017-04-28 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000711805 SCV000730584 benign not provided 2019-01-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18809214, 25262649, 20981092, 15131355, 30245029)
Athena Diagnostics RCV000711805 SCV000842208 likely benign not provided 2018-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000711805 SCV001724256 benign not provided 2024-10-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711805 SCV005263536 likely benign not provided criteria provided, single submitter not provided

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