ClinVar Miner

Submissions for variant NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) (rs139155110)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080073 SCV000111968 benign not specified 2012-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000080073 SCV000167651 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 RCV000080073 SCV000192632 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV001080945 SCV000287892 benign Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717699 SCV000848555 likely benign History of neurodevelopmental disorder 2016-07-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000226052 SCV001155917 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
RettBASE RCV000080073 SCV000188377 benign not specified 2014-05-15 no assertion criteria provided curation Silent mutation, often found in cis with c.145+17A>G and c.3003G>A (p.H1001H)
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000606547 SCV000734775 likely benign Early infantile epileptic encephalopathy 2 no assertion criteria provided clinical testing

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