Submissions for variant NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly)

dbSNP: rs202079239

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000186996	SCV000240569	benign	not provided	2019-03-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26475232)
Invitae	RCV001082319	SCV000561326	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy	2023-12-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000186996	SCV001500396	likely benign	not provided	2021-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381548	SCV002698170	likely benign	Inborn genetic diseases	2021-11-08	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Fulgent Genetics, Fulgent Genetics	RCV002498859	SCV002811810	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy 3	2021-07-20	criteria provided, single submitter	clinical testing
Department of Medical Genetics, Oslo University Hospital	RCV000171544	SCV000223717	uncertain significance	Generalized-onset seizure	2014-12-22	no assertion criteria provided	research