ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.9947C>T (p.Ala3316Val)

gnomAD frequency: 0.00011  dbSNP: rs201447376
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001419941 SCV001622209 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488233 SCV002799007 likely benign Wiedemann-Steiner syndrome 2022-05-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001419941 SCV004129417 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing KMT2A: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003920914 SCV004735426 likely benign KMT2A-related disorder 2024-01-28 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.