ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.460+2T>G

dbSNP: rs750356247
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
Eurofins Ntd Llc (ga) RCV000264961 SCV000331497 benign not specified 2016-01-22 criteria provided, single submitter clinical testing
Mendelics RCV000986769 SCV001135887 benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-05-28 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.