ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter)

dbSNP: rs104895098
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
Mendelics RCV000083736 SCV001139828 uncertain significance Familial Mediterranean fever 2019-05-28 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083736 SCV000115829 not provided Familial Mediterranean fever no assertion provided not provided
GeneReviews RCV000083736 SCV000484966 not provided Familial Mediterranean fever no assertion provided literature only

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.