ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3170A>G (p.Gln1057Arg)

gnomAD frequency: 0.00037  dbSNP: rs201083879
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 RCV000460973 SCV000241341 benign not provided 2019-04-22 criteria provided, single submitter clinical testing
Invitae RCV001085743 SCV000559737 likely benign Koolen-de Vries syndrome 2021-12-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000460973 SCV001144291 benign not provided 2018-11-23 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.