Submissions for variant NM_001374828.1(ARID1B):c.3195G>A (p.Pro1065=)

dbSNP: rs537901478

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193281	SCV000246511	uncertain significance	not specified	2015-02-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314778	SCV000849153	benign	Inborn genetic diseases	2017-04-17	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.
GeneDx	RCV001553239	SCV001774069	likely benign	not provided	2021-06-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807125	SCV002054317	likely benign	Coffin-Siris syndrome 1	2021-07-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001553239	SCV003501852	benign	not provided	2023-11-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001553239	SCV004156288	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	ARID1B: BP4, BP7, BS1, BS2