Submissions for variant NM_001374828.1(ARID1B):c.1292CAG[4] (p.Ala433_Gly434insAla)

dbSNP: rs797045267

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193569	SCV000246497	likely benign	not specified	2015-10-22	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000443657	SCV000510938	uncertain significance	not provided	2016-10-27	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
Ambry Genetics	RCV002314774	SCV000848757	likely benign	Inborn genetic diseases	2017-07-21	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	RCV000443657	SCV001947429	benign	not provided	2019-10-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000443657	SCV002397536	likely benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000443657	SCV002545469	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	ARID1B: BS1
PreventionGenetics, part of Exact Sciences	RCV004530097	SCV004753209	likely benign	ARID1B-related disorder	2019-07-15	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).