ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu) (rs1602227679)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000789029 SCV000928366 likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2018-05-10 criteria provided, single submitter clinical testing PS2, PM2,PP2,PP3

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.