ClinVar Miner

Submissions for variant NM_014297.5(ETHE1):c.150G>C (p.Leu50=)

gnomAD frequency: 0.00026  dbSNP: rs142193567
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
Invitae RCV000875416 SCV001017737 likely benign Ethylmalonic encephalopathy 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001615073 SCV001836251 likely benign not provided 2019-05-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908319 SCV004722482 likely benign ETHE1-related condition 2019-08-10 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).
Natera, Inc. RCV000875416 SCV001456216 uncertain significance Ethylmalonic encephalopathy 2020-01-24 no assertion criteria provided 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.