Submissions for variant NM_001374828.1(ARID1B):c.6963G>A (p.Ala2321=)

gnomAD frequency: 0.00009  dbSNP: rs754242891

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193775	SCV000246540	uncertain significance	not specified	2015-02-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314782	SCV000848781	likely benign	Inborn genetic diseases	2017-01-17	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	RCV001753594	SCV001985448	benign	not provided	2021-08-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807132	SCV002054325	likely benign	Coffin-Siris syndrome 1	2021-07-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001753594	SCV003011833	benign	not provided	2024-11-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001753594	SCV004156319	benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	ARID1B: BS1, BS2