ClinVar Miner

Submissions for variant NM_003159.2(CDKL5):c.3003C>T (p.His1001=) (rs36022183)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717700 SCV000848557 likely benign History of neurodevelopmental disorder 2016-07-27 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000600588 SCV000734774 likely benign Early infantile epileptic encephalopathy 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080072 SCV000111967 benign not specified 2012-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000080072 SCV000167650 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.
Genetic Services Laboratory, University of Chicago RCV000080072 SCV000192630 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000233485 SCV000287891 benign Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2017-12-02 criteria provided, single submitter clinical testing
RettBASE RCV000080072 SCV000188375 benign not specified 2014-05-15 no assertion criteria provided curation Silent mutation, often found in cis with c.145+17A>G and c.3084G>A (p.T1028T)

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