ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.575C>T (p.Pro192Leu)

gnomAD frequency: 0.00001  dbSNP: rs35285441
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
Eurofins Ntd Llc (ga) RCV000082243 SCV000114192 uncertain significance not provided 2013-05-29 criteria provided, single submitter clinical testing
Invitae RCV000348835 SCV001074450 likely benign Kleefstra syndrome 1 2023-12-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000082243 SCV004164058 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing EHMT1: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003974987 SCV004792950 likely benign EHMT1-related condition 2022-04-04 criteria provided, single submitter 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.