ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.12862C>T (p.Arg4288Trp)

gnomAD frequency: 0.00007  dbSNP: rs542331667
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002115772 SCV002406924 benign Kabuki syndrome 2023-11-27 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV003447618 SCV004175339 uncertain significance Kabuki syndrome 1 2021-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531405 SCV004714189 likely benign KMT2D-related disorder 2022-02-15 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.