ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.16194C>T (p.Asn5398=)

gnomAD frequency: 0.00017  dbSNP: rs199547050
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002065551 SCV002420907 likely benign Kabuki syndrome 2025-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541817 SCV004770935 likely benign KMT2D-related disorder 2021-05-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.