ClinVar Miner

Submissions for variant NM_020442.6(VARS2):c.1400G>A (p.Arg467His)

gnomAD frequency: 0.00001  dbSNP: rs775439829
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
Baylor Genetics RCV001201408 SCV001527814 uncertain significance Combined oxidative phosphorylation defect type 20 2018-12-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV001201408 SCV001372475 pathogenic Combined oxidative phosphorylation defect type 20 2020-07-10 no assertion criteria provided literature only

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.