ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.949A>T (p.Ile317Leu)

gnomAD frequency: 0.00011  dbSNP: rs368800243
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 RCV001586706 SCV001820538 uncertain significance not provided 2019-09-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001586706 SCV001930353 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001586706 SCV001959288 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.