ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn)

dbSNP: rs150345690
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
GeneDx RCV000712047 SCV000241358 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Invitae RCV001084191 SCV000645066 likely benign Koolen-de Vries syndrome 2021-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712047 SCV000842461 benign not provided 2018-05-15 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.