Submissions for variant NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=)

gnomAD frequency: 0.00099  dbSNP: rs145401225

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124225	SCV000167646	benign	not specified	2013-02-07	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)	RCV000124225	SCV000342319	benign	not specified	2016-06-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000524566	SCV000639469	benign	Developmental and epileptic encephalopathy, 2; Angelman syndrome-like	2025-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316345	SCV000851896	benign	Inborn genetic diseases	2018-01-23	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
CeGaT Center for Human Genetics Tuebingen	RCV003436941	SCV004166655	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	CDKL5: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV003436941	SCV005274370	benign	not provided		criteria provided, single submitter	not provided