Submissions for variant NM_139058.3(ARX):c.1074-3T>C

gnomAD frequency: 0.00302  dbSNP: rs200700643

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000145037	SCV000167034	benign	not specified	2013-07-31	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	RCV000145037	SCV000192075	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000650187	SCV000772024	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
Ambry Genetics	RCV002312544	SCV000845970	benign	Inborn genetic diseases	2016-07-14	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	RCV000145037	SCV001741595	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727581	SCV001968440	likely benign	not provided		no assertion criteria provided	clinical testing