ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3377C>T (p.Ala1126Val) (rs560251933)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000325679 SCV000478959 uncertain significance Kleefstra syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000859799 SCV000759902 benign not provided 2017-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717768 SCV000848627 uncertain significance History of neurodevelopmental disorder 2016-12-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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.