ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn)

gnomAD frequency: 0.00023  dbSNP: rs199879809
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000907000 SCV001051674 benign Pyruvate dehydrogenase E1-alpha deficiency 2021-11-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573190 SCV002498104 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276607 SCV001463036 likely benign Pyruvate dehydrogenase complex deficiency 2020-06-09 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573190 SCV001798657 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573190 SCV001971960 likely benign not provided 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.