ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.456C>T (p.Ser152=)

dbSNP: rs199714523
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
Invitae RCV000549041 SCV000630841 likely benign Walker-Warburg congenital muscular dystrophy 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003409779 SCV004139816 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing FKRP: BP4, BP7

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.