Submissions for variant NM_000080.4(CHRNE):c.1017C>G (p.Ser339=)

gnomAD frequency: 0.00816  dbSNP: rs114454383

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000277619	SCV000403876	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085634	SCV000641231	benign	Congenital myasthenic syndrome 4A	2025-01-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000537199	SCV001143559	benign	not provided	2019-03-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000537199	SCV001827716	benign	not provided	2019-12-06	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116733	SCV000150707	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.	RCV000277619	SCV001453128	benign	Congenital myasthenic syndrome	2020-09-16	no assertion criteria provided	clinical testing