Submissions for variant NM_001374828.1(ARID1B):c.7023C>T (p.His2341=)

gnomAD frequency: 0.00023  dbSNP: rs183572405

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194799	SCV000246541	benign	not specified	2015-10-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317671	SCV000849755	likely benign	Inborn genetic diseases	2017-05-26	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	RCV001657979	SCV001881923	benign	not provided	2019-07-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807133	SCV002054253	benign	Coffin-Siris syndrome 1	2021-07-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001657979	SCV002407001	benign	not provided	2024-01-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001657979	SCV004156320	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	ARID1B: BP4, BP7