ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.607G>A (p.Gly203Arg)

dbSNP: rs138175526
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
Eurofins NTD LLC (GA) RCV000340307 SCV000342599 uncertain significance not provided 2016-06-06 criteria provided, single submitter clinical testing
Invitae RCV001342306 SCV001536229 uncertain significance Koolen-de Vries syndrome 2021-09-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001342306 SCV002783819 uncertain significance Koolen-de Vries syndrome 2022-01-24 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.