ClinVar Miner

Submissions for variant NM_003159.2(CDKL5):c.2854C>T (p.Arg952Ter) (rs202153551)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000133359 SCV000730441 likely benign not specified 2017-02-14 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.
Invitae RCV000475262 SCV000558806 benign Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2016-10-13 criteria provided, single submitter clinical testing
Liping Wei Laboratory,Peking University RCV000754670 SCV000804762 likely pathogenic Autism spectrum disorder 2018-08-01 no assertion criteria provided research
RettBASE RCV000133359 SCV000188370 benign not specified 2014-05-09 no assertion criteria provided curation In exon 20, affecting only the transcript lowly expressed; found in multiple normal females in control population and normal family members

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.