ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.145+17A>G (rs199814742)

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Total submissions: 6
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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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000169952 SCV000230203 benign not specified 2015-06-29 criteria provided, single submitter clinical testing
RettBASE RCV000124219 SCV000189197 not provided not provided no assertion provided 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 Early infantile 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

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