ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2345C>A (p.Ser782Ter)

dbSNP: rs1555954074
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548702 SCV000639468 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2021-08-13 criteria provided, single submitter clinical testing
GeneDx RCV001567324 SCV001790987 likely pathogenic not provided 2019-09-05 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31313283)

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.