ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)

dbSNP: rs139171143
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000116737 SCV000225482 benign not specified 2014-12-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000116737 SCV000301933 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000279332 SCV000403862 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.
Athena Diagnostics RCV000991332 SCV000612747 benign not provided 2018-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000545129 SCV000641249 benign Congenital myasthenic syndrome 4A 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000545129 SCV001737317 benign Congenital myasthenic syndrome 4A 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000991332 SCV001785943 likely benign not provided 2020-02-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498503 SCV002810109 likely benign Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 2021-08-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000991332 SCV005217975 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116737 SCV000150711 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. RCV000279332 SCV002093368 likely benign Congenital myasthenic syndrome 2019-10-21 no assertion criteria provided clinical testing

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