ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser)

dbSNP: rs119463996
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626166 SCV000746801 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2017-12-18 criteria provided, single submitter clinical testing
OMIM RCV000003358 SCV000023516 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M 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.