Submissions for variant NM_000744.7(CHRNA4):c.77-4G>A

gnomAD frequency: 0.00141  dbSNP: rs201123897

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000186612	SCV000167725	benign	not specified	2014-03-25	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)	RCV000724230	SCV000227170	uncertain significance	not provided	2014-12-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084251	SCV000563074	benign	Autosomal dominant nocturnal frontal lobe epilepsy	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312822	SCV000847931	likely benign	Inborn genetic diseases	2021-06-22	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.
CeGaT Center for Human Genetics Tuebingen	RCV000724230	SCV002544644	benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	CHRNA4: BS1, BS2