ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.746C>T (p.Pro249Leu)

gnomAD frequency: 0.00008  dbSNP: rs147876220
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593233 SCV000704576 uncertain significance not provided 2017-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001240944 SCV001413930 benign Qualitative or quantitative defects of dysferlin 2024-10-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000593233 SCV003829627 uncertain significance not provided 2021-06-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834886 SCV002079763 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-05-27 no assertion criteria provided 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.