Submissions for variant NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=)

gnomAD frequency: 0.00039  dbSNP: rs140777637

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116416	SCV000150340	uncertain significance	not provided	2013-06-04	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000594671	SCV000703143	likely benign	not specified	2016-11-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000116416	SCV000724690	benign	not provided	2019-04-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316294	SCV000851757	likely benign	Inborn genetic diseases	2014-11-24	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Invitae	RCV001086909	SCV001004768	benign	Developmental and epileptic encephalopathy, 8	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000116416	SCV001150327	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ARHGEF9: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV003925124	SCV004738296	likely benign	ARHGEF9-related condition	2019-09-17	criteria provided, single submitter	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).