ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.180G>A (p.Lys60=)

gnomAD frequency: 0.00031  dbSNP: rs140636870
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877066 SCV001019737 likely benign Propionic acidemia 2025-01-21 criteria provided, single submitter clinical testing
Elsea Laboratory, Baylor College of Medicine RCV000877066 SCV001424213 uncertain significance Propionic acidemia 2020-04-01 criteria provided, single submitter clinical testing
GeneDx RCV001565080 SCV001788351 likely benign not provided 2021-06-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000877066 SCV001460364 likely benign Propionic acidemia 2020-04-22 no assertion criteria provided 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.