ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.8632C>T (p.Leu2878=)

gnomAD frequency: 0.00021  dbSNP: rs150502030
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
Invitae RCV000885802 SCV001029271 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000885802 SCV001886025 benign not provided 2020-12-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000885802 SCV004129409 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing KMT2A: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003930659 SCV004740063 likely benign KMT2A-related disorder 2024-02-20 criteria provided, single submitter 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.