Submissions for variant NM_001374828.1(ARID1B):c.1211GAG[11] (p.Gly411_Ala412insGlyGlyGly)

dbSNP: rs747790383

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002317499	SCV000850902	likely benign	Inborn genetic diseases	2021-09-21	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.
GeneDx	RCV001655584	SCV001870574	benign	not provided	2019-03-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001655584	SCV002419683	likely benign	not provided	2025-01-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001655584	SCV004811273	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	ARID1B: BS1
PreventionGenetics, part of Exact Sciences	RCV004540024	SCV004761835	likely benign	ARID1B-related disorder	2019-10-24	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).