ClinVar Miner

Submissions for variant NM_001159287.1(TPI1):c.69A>G (p.Arg23=)

gnomAD frequency: 0.09809  dbSNP: rs1800200
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
Illumina Laboratory Services, Illumina RCV000327732 SCV000483393 benign Triosephosphate isomerase deficiency 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000327732 SCV001472333 benign Triosephosphate isomerase deficiency 2023-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001643127 SCV001856417 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 8571957, 10910933, 10575546)

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.