Submissions for variant NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His)

gnomAD frequency: 0.00688  dbSNP: rs55685423

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145707	SCV000192825	uncertain significance	Autosomal dominant nocturnal frontal lobe epilepsy 3	2014-01-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000178805	SCV000230964	likely benign	not specified	2015-05-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000178805	SCV000240550	benign	not specified	2016-07-07	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084624	SCV000285617	benign	Autosomal dominant nocturnal frontal lobe epilepsy	2025-02-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000178805	SCV000305487	benign	not specified		criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000440291	SCV000511851	likely benign	not provided	2016-12-01	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Athena Diagnostics	RCV000440291	SCV000841505	benign	not provided	2017-11-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312636	SCV000846510	benign	Inborn genetic diseases	2017-05-28	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.
CeGaT Center for Human Genetics Tuebingen	RCV000440291	SCV002544313	benign	not provided	2025-03-01	criteria provided, single submitter	clinical testing	CHRNB2: BS1, BS2