ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) (rs119463995)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675045 SCV000800477 uncertain significance Fukuyama congenital muscular dystrophy 2017-01-09 criteria provided, single submitter clinical testing
OMIM RCV000003368 SCV000023526 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 2009-05-01 no assertion criteria 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.