Submissions for variant NM_000744.7(CHRNA4):c.24G>C (p.Ala8=)

gnomAD frequency: 0.00898  dbSNP: rs6089898

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116721	SCV000150694	uncertain significance	not provided	2013-08-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000186613	SCV000167728	benign	not specified	2013-11-01	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.
Eurofins Ntd Llc (ga)	RCV000186613	SCV000337466	benign	not specified	2018-03-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082699	SCV000563061	benign	Autosomal dominant nocturnal frontal lobe epilepsy	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313868	SCV000847859	likely benign	Inborn genetic diseases	2016-09-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.