ClinVar Miner

Submissions for variant NM_003718.5(CDK13):c.2995C>T (p.Arg999Ter)

gnomAD frequency: 0.00001  dbSNP: rs1175530571
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
GeneDx RCV000578663 SCV000680859 pathogenic not provided 2024-06-25 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35982160, 35982159, 29393965, 33057194)
Clinical Genetics Laboratory, Skane University Hospital Lund RCV000578663 SCV005197423 uncertain significance not provided 2022-05-27 criteria provided, single submitter 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.