ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.11610G>A (p.Met3870Ile) (rs73302195)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121429 SCV000202910 benign not specified 2015-07-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000121429 SCV000193378 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
ITMI RCV000121429 SCV000085621 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000387772 SCV000379194 likely benign Kabuki syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000387772 SCV000636632 benign Kabuki syndrome 2017-11-18 criteria provided, single submitter clinical testing

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.