ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6752C>T (p.Ser2251Leu)

gnomAD frequency: 0.00200  dbSNP: rs189199944
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080205 SCV000112100 benign not specified 2013-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000080205 SCV000309628 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000408005 SCV000636666 benign Kabuki syndrome 2024-01-27 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659741 SCV000781590 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000858851 SCV001144522 benign not provided 2018-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000858851 SCV001844036 benign not provided 2020-01-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28933623)
CeGaT Center for Human Genetics Tuebingen RCV000858851 SCV004130772 benign not provided 2023-02-01 criteria provided, single submitter clinical testing KMT2D: PP2, BS1, BS2
ITMI RCV000080205 SCV000085584 not provided not specified 2013-09-19 no assertion provided reference population

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.