ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.4401C>T (p.Gly1467=)

gnomAD frequency: 0.00108  dbSNP: rs192659833
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000405479 SCV000332298 benign not specified 2015-06-16 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659719 SCV000781567 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000369551 SCV001012553 benign Kabuki syndrome 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001706411 SCV001886037 benign not provided 2020-01-31 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.