ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.902T>A (p.Leu301Ter)

dbSNP: rs1189248208
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 RCV001313644 SCV001504145 uncertain significance Koolen-de Vries syndrome 2021-08-27 criteria provided, single submitter clinical testing
GeneDx RCV002260700 SCV002540366 pathogenic not provided 2022-06-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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

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.