ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2209C>T (p.Arg737Trp)

gnomAD frequency: 0.00001  dbSNP: rs539274614
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
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659701 SCV000781548 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001868177 SCV002187937 benign Kabuki syndrome 2023-04-28 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251815 SCV001427557 likely benign Intellectual disability 2019-01-01 no assertion criteria provided 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.