Submissions for variant NM_001323289.2(CDKL5):c.2022C>G (p.Ser674=)

gnomAD frequency: 0.00050  dbSNP: rs763419895

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001511866	SCV001719179	benign	Developmental and epileptic encephalopathy, 2; Angelman syndrome-like	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001712918	SCV001939438	likely benign	not provided	2021-06-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002421164	SCV002718504	benign	Inborn genetic diseases	2017-10-13	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.
PreventionGenetics, part of Exact Sciences	RCV003931055	SCV004739094	likely benign	CDKL5-related condition	2019-04-01	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001712918	SCV001978071	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001712918	SCV001980429	likely benign	not provided		no assertion criteria provided	clinical testing