Submissions for variant NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln)

dbSNP: rs41303631

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000120065	SCV000593367	benign	not specified	2016-02-26	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514601	SCV000609813	likely benign	not provided	2017-06-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000514601	SCV001111655	likely benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000514601	SCV001793750	likely benign	not provided	2020-12-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24728327, 28767289)
Genome-Nilou Lab	RCV002259635	SCV002539489	benign	Intellectual disability, autosomal dominant 14	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514601	SCV004123615	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	ARID1A: BP4, BS1, BS2
ITMI	RCV000120065	SCV000084202	not provided	not specified	2013-09-19	no assertion provided	reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000514601	SCV001741040	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000120065	SCV001969350	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925169	SCV004743623	likely benign	ARID1A-related disorder	2019-05-07	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).