ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.*6A>G

gnomAD frequency: 0.00487  dbSNP: rs55806270
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174218 SCV000225483 benign not specified 2015-05-15 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000174218 SCV000301924 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386633 SCV000403858 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001549355 SCV001769490 likely benign not provided 2021-01-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000174218 SCV002072080 likely benign not specified 2017-11-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001549355 SCV004139444 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing CHRNE: BS2
Natera, Inc. RCV000386633 SCV002093362 likely benign Congenital myasthenic syndrome 2019-10-25 no assertion criteria provided clinical testing

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