ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2152T>C (p.Ser718Pro)

gnomAD frequency: 0.14472  dbSNP: rs34043286
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712038 SCV000842452 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV001514687 SCV001722591 benign Koolen-de Vries syndrome 2022-10-19 criteria provided, single submitter clinical testing
GeneDx RCV000712038 SCV001887051 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23222517)

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.