Submissions for variant NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup)

dbSNP: rs398124508

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000484947	SCV000192080	likely benign	not specified	2016-03-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088171	SCV000551639	benign	Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related	2025-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000145042	SCV000566602	likely benign	not provided	2020-09-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000623262	SCV000850637	benign	Inborn genetic diseases	2018-06-15	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.
Eurofins Ntd Llc (ga)	RCV000145042	SCV000202189	uncertain significance	not provided	2014-02-06	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000145042	SCV001742699	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000145042	SCV001797514	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000145042	SCV001971970	likely benign	not provided		no assertion criteria provided	clinical testing