ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.1631C>T (p.Ala544Val)

gnomAD frequency: 0.00004  dbSNP: rs142684074
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
Eurofins Ntd Llc (ga) RCV000595631 SCV000705677 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000595631 SCV001773012 uncertain significance not provided 2020-11-12 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002476311 SCV002794239 uncertain significance Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic, 4 2022-01-18 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.