Submissions for variant NM_001374828.1(ARID1B):c.1170CGG[4] (p.Gly399_Gly402del)

dbSNP: rs587779747

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514996	SCV000610493	uncertain significance	not provided	2017-06-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514996	SCV002062714	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ARID1B: BP3, BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV000514996	SCV002175422	likely benign	not provided	2023-12-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002376951	SCV002685436	likely benign	Inborn genetic diseases	2017-09-21	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.
PreventionGenetics, part of Exact Sciences	RCV004541598	SCV004783465	likely benign	ARID1B-related disorder	2021-03-02	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).