ClinVar Miner

Submissions for variant NM_001040716.2(PC):c.2748C>T (p.Asp916=)

gnomAD frequency: 0.00025  dbSNP: rs149689543
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
GeneDx RCV001704455 SCV000530387 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV000885476 SCV001028919 likely benign Pyruvate carboxylase deficiency 2024-01-25 criteria provided, single submitter 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.