Submissions for variant NM_001323289.2(CDKL5):c.555-19C>G

gnomAD frequency: 0.02527  dbSNP: rs75057928

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080075	SCV000111970	benign	not specified	2012-12-04	criteria provided, single submitter	clinical testing
Invitae	RCV001512184	SCV001719548	benign	Developmental and epileptic encephalopathy, 2; Angelman syndrome-like	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000144140	SCV001827435	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
RettBASE	RCV000144140	SCV000189217	not provided	not provided		flagged submission	not provided
Genetic Services Laboratory, University of Chicago	RCV000080075	SCV000192635	likely benign	not specified		no assertion criteria provided	clinical testing
RettBASE	RCV000080075	SCV000222272	benign	not specified	2014-05-09	no assertion criteria provided	curation	Found in unaffected family members, likely to be rare polymorphism; shown in Nemos et al 2009 to have no effect on splicing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000080075	SCV000256042	benign	not specified	2015-02-13	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000080075	SCV001930646	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000080075	SCV001975358	benign	not specified		no assertion criteria provided	clinical testing