Submissions for variant NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del)

dbSNP: rs398124510

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082604	SCV000114646	benign	not specified	2013-11-04	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082604	SCV000192097	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082604	SCV000315890	likely benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000463305	SCV000561867	benign	Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316276	SCV000851632	likely benign	Inborn genetic diseases	2019-03-02	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
GeneDx	RCV001647067	SCV001856749	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001647067	SCV001962612	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	ARX: BS2
OMIM	RCV000011954	SCV000032188	uncertain significance	Intellectual disability, X-linked, with or without seizures, arx-related	2011-01-01	no assertion criteria provided	literature only