ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.611G>A (p.Arg204His) (rs775663363)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, School of Medicine,Tehran University of Medical Sciences (TUMS) RCV000491523 SCV000297822 uncertain significance Familial Mediterranean fever 2016-02-03 criteria provided, single submitter research The patient was a 6-year-old boy and the clinical manifestations of this patient were periodic fever and abdominal pain which was started from the age 3

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.