Submissions for variant NM_000814.6(GABRB3):c.585C>T (p.Gly195=)

gnomAD frequency: 0.00015  dbSNP: rs781294125

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000423858	SCV000523568	likely benign	not specified	2018-01-31	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.
Ambry Genetics	RCV002318426	SCV000851589	likely benign	Inborn genetic diseases	2017-03-08	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000862617	SCV001003143	likely benign	Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5	2024-01-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV004584708	SCV005074591	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	GABRB3: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003902532	SCV004734597	likely benign	GABRB3-related disorder	2021-12-22	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).