ClinVar Miner

Submissions for variant NM_002491.3(NDUFB3):c.201del (p.Phe68fs)

gnomAD frequency: 0.00004  dbSNP: rs747403932
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
CeGaT Center for Human Genetics Tuebingen RCV000997642 SCV001153264 likely pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000997642 SCV002562631 likely pathogenic not provided 2023-07-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 31 amino acids are replaced with 12 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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.