ClinVar Miner

Submissions for variant NM_020442.6(VARS2):c.2589G>C (p.Glu863Asp)

gnomAD frequency: 0.00086  dbSNP: rs143473050
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
GeneDx RCV001576755 SCV001804007 uncertain significance not provided 2025-02-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001576755 SCV002451455 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002243307 SCV002512611 uncertain significance Combined oxidative phosphorylation defect type 20 2021-03-24 criteria provided, single submitter clinical testing ACMG classification criteria: BP4 supporting

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.