ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2158C>T (p.Arg720Cys)

gnomAD frequency: 0.00001  dbSNP: rs376233499
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 RCV001704997 SCV000241327 likely benign not provided 2018-04-24 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196854 SCV001367487 uncertain significance Koolen-de Vries syndrome 2019-03-20 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3,BP1.
Invitae RCV001196854 SCV003442281 benign Koolen-de Vries syndrome 2023-12-14 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.