Submissions for variant NM_001374828.1(ARID1B):c.1238GAGCAGGAG[1] (p.413GAG[1])

dbSNP: rs771557031

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000195234	SCV000246547	uncertain significance	not specified	2015-01-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001311753	SCV001502052	likely benign	not provided	2020-10-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001311753	SCV001850615	benign	not provided	2021-05-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001311753	SCV002203548	likely benign	not provided	2023-11-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381650	SCV002689640	likely benign	Inborn genetic diseases	2018-02-08	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.
PreventionGenetics, part of Exact Sciences	RCV004541234	SCV004788050	likely benign	ARID1B-related disorder	2021-05-19	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).