Submissions for variant NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=)

gnomAD frequency: 0.00330  dbSNP: rs55857552

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000186615	SCV000167731	benign	not specified	2013-12-12	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)	RCV000186615	SCV000230963	benign	not specified	2017-05-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084911	SCV000561323	benign	Autosomal dominant nocturnal frontal lobe epilepsy	2024-01-27	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711175	SCV000841506	benign	not provided	2018-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312548	SCV000846520	benign	Inborn genetic diseases	2022-06-30	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.
Fulgent Genetics, Fulgent Genetics	RCV000600905	SCV002805033	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy 3	2021-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000711175	SCV004032973	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CHRNB2: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV000711175	SCV005262219	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000600905	SCV000733947	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy 3		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000711175	SCV001932187	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915243	SCV004732165	likely benign	CHRNB2-related disorder	2019-07-10	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).