ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.932C>T (p.Ala311Val) (rs74346519)

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 RCV000725291 SCV000329419 likely benign not provided 2020-09-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29178647, 31522233)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725291 SCV000335716 uncertain significance not provided 2015-10-01 criteria provided, single submitter clinical testing
Invitae RCV001089437 SCV001014332 likely benign Familial Mediterranean fever 2020-11-11 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.