Submissions for variant NM_001374828.1(ARID1B):c.1194A>C (p.Gly398=)

gnomAD frequency: 0.00209  dbSNP: rs112474841

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000502322	SCV000593376	likely benign	not specified	2015-10-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311813	SCV000846545	likely benign	Inborn genetic diseases	2016-05-06	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.
CeGaT Center for Human Genetics Tuebingen	RCV001311752	SCV001502051	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	ARID1B: BP4, BP7
GeneDx	RCV001311752	SCV001855448	benign	not provided	2018-12-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807265	SCV002054217	benign	Coffin-Siris syndrome 1	2021-07-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001311752	SCV002449325	likely benign	not provided	2025-01-22	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001311752	SCV005226196	likely benign	not provided		criteria provided, single submitter	not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000502322	SCV001956662	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001311752	SCV001968048	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535581	SCV004754560	benign	ARID1B-related disorder	2019-07-02	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).