Submissions for variant NM_001374828.1(ARID1B):c.980C>G (p.Pro327Arg)

gnomAD frequency: 0.00018  dbSNP: rs775385239

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001676629	SCV001893215	benign	not provided	2021-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002386499	SCV002668455	benign	Inborn genetic diseases	2021-07-13	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.
CeGaT Center for Human Genetics Tuebingen	RCV001676629	SCV004162500	uncertain significance	not provided	2022-12-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001676629	SCV004266110	benign	not provided	2022-12-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004536249	SCV004735376	likely benign	ARID1B-related disorder	2023-01-30	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).