Submissions for variant NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro)

gnomAD frequency: 0.03249  dbSNP: rs35478150

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000145529	SCV000167645	benign	not specified	2012-03-23	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	RCV000145529	SCV000192618	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000145529	SCV000226467	benign	not specified	2015-08-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000145529	SCV000309461	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000459993	SCV000558804	benign	Developmental and epileptic encephalopathy, 2; Angelman syndrome-like	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000715071	SCV000845895	benign	History of neurodevelopmental disorder	2015-06-25	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Genome-Nilou Lab	RCV001579284	SCV001806755	benign	Developmental and epileptic encephalopathy, 2	2021-07-22	criteria provided, single submitter	clinical testing
RettBASE	RCV000145529	SCV000188360	benign	not specified	2014-05-15	no assertion criteria provided	curation	Common polymorphism
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000145529	SCV000256043	benign	not specified	2015-02-13	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000145529	SCV001928537	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000145529	SCV001953413	benign	not specified		no assertion criteria provided	clinical testing