Submissions for variant NM_139058.3(ARX):c.1671G>A (p.Thr557=)

gnomAD frequency: 0.00349  dbSNP: rs190910161

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082603	SCV000114645	benign	not specified	2013-08-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000082603	SCV000167032	benign	not specified	2012-12-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago	RCV000082603	SCV000192088	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000415758	SCV000493189	uncertain significance	not provided	2016-08-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000532975	SCV000652323	benign	Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related	2025-02-04	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000082603	SCV000677133	benign	not specified	2022-02-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313831	SCV000849201	benign	Inborn genetic diseases	2017-05-22	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000415758	SCV001740962	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000082603	SCV001932039	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000415758	SCV001952042	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000415758	SCV001968416	likely benign	not provided		no assertion criteria provided	clinical testing