Submissions for variant NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=)

gnomAD frequency: 0.00029  dbSNP: rs143992148

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000169951	SCV000167643	benign	not specified	2014-03-19	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	RCV000169951	SCV000192607	likely benign	not specified	2015-08-10	criteria provided, single submitter	clinical testing
Invitae	RCV001088078	SCV000558808	benign	Developmental and epileptic encephalopathy, 2; Angelman syndrome-like	2024-01-10	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000169951	SCV000709145	benign	not specified	2017-06-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316344	SCV000850539	benign	Inborn genetic diseases	2017-05-17	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.
Athena Diagnostics Inc	RCV000469724	SCV001143521	benign	not provided	2019-04-05	criteria provided, single submitter	clinical testing
RettBASE	RCV000169951	SCV000222251	benign	not specified	2014-03-13	no assertion criteria provided	curation