ClinVar Miner

Submissions for variant NM_001193466.2(KANSL1):c.3029C>T (p.Pro1010Leu) (rs7220988)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000385034 SCV000403606 benign Syndromic intellectual disability 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389204 SCV000483646 benign MAPT-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712042 SCV000842456 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Mendelics RCV000989938 SCV001140679 benign Koolen-de Vries syndrome 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000989938 SCV001721730 benign Koolen-de Vries syndrome 2020-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000712042 SCV001892709 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23909765)

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.