Submissions for variant NM_198904.4(GABRG2):c.798T>C (p.Phe266=)

gnomAD frequency: 0.00067  dbSNP: rs115126975

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125185	SCV000168626	benign	not specified	2014-02-20	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)	RCV000727524	SCV000709451	uncertain significance	not provided	2017-06-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084572	SCV001007193	benign	Epilepsy, childhood absence 2; Febrile seizures, familial, 8	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415614	SCV002678626	benign	Inborn genetic diseases	2020-06-08	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	RCV000727524	SCV004011639	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	GABRG2: BP4, BP7