ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.117C>T (p.Asn39=)

gnomAD frequency: 0.00003  dbSNP: rs747136051
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
CeGaT Center for Human Genetics Tuebingen RCV000996571 SCV001151359 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Invitae RCV001443473 SCV001646445 likely benign Koolen-de Vries syndrome 2021-03-14 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.