Submissions for variant NM_001374828.1(ARID1B):c.3105C>T (p.Pro1035=)

gnomAD frequency: 0.00106  dbSNP: rs144894118

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000195254	SCV000246510	uncertain significance	not specified	2015-04-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314777	SCV000847902	likely benign	Inborn genetic diseases	2016-09-27	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	RCV001682906	SCV001898427	benign	not provided	2020-01-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807124	SCV002054316	likely benign	Coffin-Siris syndrome 1	2021-07-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001682906	SCV002931481	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001682906	SCV004156286	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	ARID1B: BP4, BP7