Submissions for variant NM_001374828.1(ARID1B):c.1211GAG[6] (p.Gly410_Gly411del)

dbSNP: rs747790383

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000504233	SCV000593377	likely benign	not specified	2016-07-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311814	SCV000846760	benign	Inborn genetic diseases	2017-05-16	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
GeneDx	RCV001613319	SCV001838962	benign	not provided	2019-10-09	criteria provided, single submitter	clinical testing
Invitae	RCV001613319	SCV002282451	likely benign	not provided	2024-01-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001613319	SCV004162507	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	ARID1B: BS1
PreventionGenetics, part of Exact Sciences	RCV003972825	SCV004791081	likely benign	ARID1B-related condition	2020-10-13	criteria provided, single submitter	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).