ClinVar Miner

Submissions for variant NM_007215.4(POLG2):c.361T>G (p.Phe121Val)

gnomAD frequency: 0.00005  dbSNP: rs376142071
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 RCV000936711 SCV001082483 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000936711 SCV001765567 uncertain significance not provided 2024-05-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function

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.