ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.45C>T (p.Leu15=) (rs34563587)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116739 SCV000301941 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272816 SCV000403896 benign Congenital myasthenic syndrome 2018-01-12 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.
GeneDx RCV000116739 SCV000523578 benign not specified 2016-04-19 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.
Invitae RCV001084054 SCV000641254 benign Myasthenic syndrome, congenital, 4a, slow-channel 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711204 SCV000841536 benign not provided 2018-03-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116739 SCV000150713 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV000272816 SCV001453142 benign Congenital myasthenic syndrome 2020-09-16 no assertion criteria provided clinical testing

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