Submissions for variant NM_001374828.1(ARID1B):c.2629C>T (p.Pro877Ser)

gnomAD frequency: 0.00727  dbSNP: rs114201726

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514155	SCV000610024	benign	not provided	2017-02-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311828	SCV000847171	benign	Inborn genetic diseases	2016-07-07	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	RCV000514155	SCV001825429	likely benign	not provided	2020-09-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807289	SCV002054228	benign	Coffin-Siris syndrome 1	2021-07-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000514155	SCV002357981	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000514155	SCV005226204	likely benign	not provided		criteria provided, single submitter	not provided