Submissions for variant NM_000744.7(CHRNA4):c.51G>A (p.Leu17=)

gnomAD frequency: 0.05992  dbSNP: rs79739740

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079316	SCV000111186	benign	not specified	2017-03-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079316	SCV000305470	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000576461	SCV000677250	benign	Autosomal dominant nocturnal frontal lobe epilepsy 1	2017-04-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311570	SCV000846639	benign	Inborn genetic diseases	2016-02-22	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Invitae	RCV001511256	SCV001718466	benign	Autosomal dominant nocturnal frontal lobe epilepsy	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001711225	SCV001942544	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000079316	SCV000150695	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.