Submissions for variant NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=)

gnomAD frequency: 0.00210  dbSNP: rs150844616

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000174314	SCV000167642	benign	not specified	2013-01-16	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	RCV000174314	SCV000192604	benign	not specified	2015-08-10	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000174314	SCV000225595	benign	not specified	2015-02-11	criteria provided, single submitter	clinical testing
Invitae	RCV000463106	SCV000558807	benign	Developmental and epileptic encephalopathy, 2; Angelman syndrome-like	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000174314	SCV000612716	benign	not specified	2017-03-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000717123	SCV000847969	likely benign	History of neurodevelopmental disorder	2016-09-30	criteria provided, single submitter	clinical testing	Synonymous alterations with insufficient evidence to classify as benign
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705905	SCV001930180	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000174314	SCV001972881	benign	not specified		no assertion criteria provided	clinical testing