ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.14474G>A (p.Arg4825Gln)

gnomAD frequency: 0.00005  dbSNP: rs758494772
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734492 SCV000862640 uncertain significance not provided 2018-08-13 criteria provided, single submitter clinical testing
GeneDx RCV000734492 SCV001802472 likely benign not provided 2020-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855815 SCV002291503 benign Kabuki syndrome 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002536521 SCV003555232 likely benign Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004540074 SCV004779968 likely benign KMT2D-related disorder 2023-12-18 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.