Submissions for variant NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=)

gnomAD frequency: 0.86626  dbSNP: rs2229960

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079311	SCV000111181	benign	not specified	2017-06-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079311	SCV000305463	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000079311	SCV000677246	benign	not specified	2021-06-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311567	SCV000846112	benign	Inborn genetic diseases	2016-01-08	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520743	SCV001729922	benign	Autosomal dominant nocturnal frontal lobe epilepsy	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000576823	SCV001806248	benign	Autosomal dominant nocturnal frontal lobe epilepsy 1	2021-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001675604	SCV001895859	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000079311	SCV005087382	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 100% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 93. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001675604	SCV005311227	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000079311	SCV000150688	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.