Submissions for variant NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del)

dbSNP: rs387906492

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145053	SCV000192093	benign	not specified	2014-04-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000145053	SCV000227552	likely benign	not specified	2016-04-28	criteria provided, single submitter	clinical testing
Invitae	RCV000228763	SCV000291347	benign	Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000145053	SCV000564594	likely benign	not specified	2017-01-13	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.
Ambry Genetics	RCV002453466	SCV002612016	likely benign	Inborn genetic diseases	2017-07-19	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.