ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1112+19C>T

gnomAD frequency: 0.00007  dbSNP: rs398123703
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) RCV000080107 SCV000112002 uncertain significance not provided 2012-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520140 SCV001729178 benign Kabuki syndrome 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000080107 SCV001847964 benign not provided 2021-04-06 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.