ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.192T>G (p.Leu64=)

gnomAD frequency: 0.00005  dbSNP: rs145496868
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 RCV001288564 SCV000512550 likely benign not provided 2019-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000862742 SCV001003290 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2024-01-11 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288564 SCV001475767 likely benign not provided 2020-05-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411288 SCV002720988 likely benign Inborn genetic diseases 2018-03-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.