ClinVar Miner

Submissions for variant NM_182931.3(KMT2E):c.5256G>A (p.Ser1752=)

gnomAD frequency: 0.00024  dbSNP: rs149960021
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 RCV002928753 SCV003276137 benign not provided 2025-01-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003906375 SCV004725330 benign KMT2E-related disorder 2023-11-21 no assertion criteria provided clinical testing This variant is classified as 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.