ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys) (rs141721605)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000116709 SCV000150678 uncertain significance not provided 2014-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000186878 SCV000240449 likely benign not specified 2017-05-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000396382 SCV000473184 benign Epilepsy, nocturnal frontal lobe, type 4 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116709 SCV000701446 uncertain significance not provided 2016-10-14 criteria provided, single submitter clinical testing
Invitae RCV001079224 SCV001001641 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2019-12-31 criteria provided, single submitter clinical testing

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