ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.2250_2276del (p.746_754RPEEPHLSP[1]) (rs587778449)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000121368 SCV000193427 benign not specified 2017-05-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121368 SCV000340669 benign not specified 2016-04-13 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000429353 SCV000510759 benign not provided 2016-09-01 criteria provided, single submitter clinical testing
Invitae RCV001086532 SCV001017369 benign Kabuki syndrome 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000988842 SCV001138731 likely benign Kabuki syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000121368 SCV000085550 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.