ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) (rs35478150)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000145529 SCV000167645 benign not specified 2012-03-23 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 RCV000145529 SCV000192618 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000145529 SCV000226467 benign not specified 2015-08-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000145529 SCV000309461 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000459993 SCV000558804 benign Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715071 SCV000845895 benign History of neurodevelopmental disorder 2015-06-25 criteria provided, single submitter clinical testing
RettBASE RCV000145529 SCV000188360 benign not specified 2014-05-15 no assertion criteria provided curation Common polymorphism
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000145529 SCV000256043 benign not specified 2015-02-13 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.