ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.870C>T (p.Cys290=)

gnomAD frequency: 0.00060  dbSNP: rs141174380
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
GeneDx RCV000839910 SCV000981820 likely benign not provided 2021-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082942 SCV001033077 likely benign Propionic acidemia 2025-01-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000839910 SCV005217657 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001082942 SCV001467082 likely benign Propionic acidemia 2020-08-27 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.