ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.1463C>T (p.Pro488Leu)

gnomAD frequency: 0.00001  dbSNP: rs121964988
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 RCV000012743 SCV004193969 likely pathogenic Pyruvate dehydrogenase E3 deficiency 2023-03-29 criteria provided, single submitter clinical testing
OMIM RCV000012743 SCV000032978 pathogenic Pyruvate dehydrogenase E3 deficiency 1993-06-01 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.