Submissions for variant NM_001374828.1(ARID1B):c.2382G>A (p.Ala794=)

gnomAD frequency: 0.52321  dbSNP: rs3734441

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000114263	SCV000147822	benign	not specified	2013-04-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312002	SCV000846132	benign	Inborn genetic diseases	2016-03-13	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.
Genome-Nilou Lab	RCV001554099	SCV001775269	benign	Coffin-Siris syndrome 1	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001682800	SCV001903703	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001682800	SCV002464279	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000114263	SCV001740776	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000114263	SCV001958737	benign	not specified		no assertion criteria provided	clinical testing