ClinVar Miner

Submissions for variant NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) (rs74315318)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724272 SCV000227517 uncertain significance not provided 2014-12-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377207 SCV000357308 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.
Illumina Clinical Services Laboratory,Illumina RCV000285161 SCV000357309 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000175942 SCV000539240 uncertain significance not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This gene has been removed from the otogenome due to a weak connection with HL. I would propose that it also be removed from our IF list. Furthermore, there is insufficient evidence for this variant to go above VUS
Invitae RCV000724272 SCV001056679 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000006858 SCV000027054 pathogenic Deafness, autosomal dominant 2b 1998-12-01 no assertion criteria provided literature only

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