ClinVar Miner

Submissions for variant NM_024009.3(GJB3):c.580G>A (p.Ala194Thr)

gnomAD frequency: 0.00039  dbSNP: rs117385606
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000404541 SCV000357314 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001510379 SCV001717395 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001510379 SCV001871426 benign not provided 2021-03-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15469079, 27057829, 20627047, 33126609, 22617145, 24612839, 31015822, 25788563, 20593197, 31541171, 25724631, 30733538, 30245029, 19050930, 20981092, 25262649, 23638949, 22652773)
Fulgent Genetics, Fulgent Genetics RCV002504756 SCV002813023 likely benign Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 2B; Erythrokeratodermia variabilis et progressiva 1 2022-03-18 criteria provided, single submitter clinical testing
OMIM RCV000006866 SCV000027062 pathogenic Deafness, digenic, GJB2/GJB3 2009-02-01 no assertion criteria provided literature only

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