ClinVar Miner

Submissions for variant NM_001040716.2(PC):c.1513+13del

gnomAD frequency: 0.00099  dbSNP: rs755170894
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186099 SCV000239124 benign not specified 2013-09-13 criteria provided, single submitter clinical testing The variant is found in MITO24-MITOP,MITONUC-MITOP panel(s).
Illumina Laboratory Services, Illumina RCV000300746 SCV000373465 uncertain significance Pyruvate carboxylase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000300746 SCV002402876 benign Pyruvate carboxylase deficiency 2024-01-30 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.