Submissions for variant NM_001323289.2(CDKL5):c.145+17A>G

gnomAD frequency: 0.00355  dbSNP: rs199814742

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000169952	SCV000167639	benign	not specified	2012-03-15	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.
Eurofins Ntd Llc (ga)	RCV000169952	SCV000230203	benign	not specified	2015-06-29	criteria provided, single submitter	clinical testing
Invitae	RCV002055454	SCV002404416	benign	Developmental and epileptic encephalopathy, 2; Angelman syndrome-like	2024-02-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000611911	SCV002798718	likely benign	Developmental and epileptic encephalopathy, 2	2022-05-03	criteria provided, single submitter	clinical testing
RettBASE	RCV000124219	SCV000189197	not provided	not provided		flagged submission	not provided
RettBASE	RCV000169952	SCV000222252	benign	not specified	2014-05-09	no assertion criteria provided	curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000611911	SCV000734773	likely benign	Developmental and epileptic encephalopathy, 2		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000169952	SCV001927540	benign	not specified		no assertion criteria provided	clinical testing