ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1036T>C (p.Ser346Pro) (rs753811189)

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
Institute of Human Genetics,Cologne University RCV000576484 SCV000660444 likely pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 no assertion criteria provided clinical testing This is detected in trans with the pathogenic variant NM_024301.4:c.826C>A .

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.