ClinVar Miner

Submissions for variant NM_001966.4(EHHADH):c.1006G>A (p.Ala336Thr)

gnomAD frequency: 0.00059  dbSNP: rs146431168
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
Eurofins Ntd Llc (ga) RCV000729080 SCV000856716 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000729080 SCV001115908 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947917 SCV004770890 likely benign EHHADH-related disorder 2022-03-18 no assertion criteria provided 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.