ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3002C>T (p.Pro1001Leu)

gnomAD frequency: 0.00003  dbSNP: rs1037585739
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 RCV001720011 SCV000515831 likely benign not provided 2019-11-25 criteria provided, single submitter clinical testing
Invitae RCV001066773 SCV001231793 likely benign Koolen-de Vries syndrome 2024-01-04 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.