ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.917+15C>G

gnomAD frequency: 0.16257  dbSNP: rs12942540
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253539 SCV000301949 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000373380 SCV000403878 benign Congenital myasthenic syndrome 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.
GeneDx RCV000253539 SCV000519233 benign not specified 2016-02-04 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.
Genome-Nilou Lab RCV001542829 SCV001761212 benign Congenital myasthenic syndrome 4A 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542830 SCV001761213 benign Congenital myasthenic syndrome 4B 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542831 SCV001761214 benign Congenital myasthenic syndrome 4C 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001542829 SCV002407123 benign Congenital myasthenic syndrome 4A 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709415 SCV005254717 benign not provided criteria provided, single submitter not provided

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