ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.*61C>T

gnomAD frequency: 0.17963  dbSNP: rs12940036
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000382689 SCV000403855 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.
Genome-Nilou Lab RCV001543042 SCV001761538 benign Congenital myasthenic syndrome 4A 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543043 SCV001761539 benign Congenital myasthenic syndrome 4B 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543044 SCV001761540 benign Congenital myasthenic syndrome 4C 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709699 SCV005254712 benign not provided criteria provided, single submitter not provided

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