ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.2457G>A (p.Gln819=)

gnomAD frequency: 0.00004  dbSNP: rs773456696
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001506562 SCV001711487 likely benign Combined oxidative phosphorylation defect type 17 2018-07-30 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316608 SCV004017447 likely benign Prostate cancer, hereditary, 2 2023-07-07 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.