ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5052C>T (p.Ile1684=)

gnomAD frequency: 0.00001  dbSNP: rs2094956948
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001499806 SCV001704581 likely benign Qualitative or quantitative defects of dysferlin 2023-10-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832654 SCV002082354 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-05-14 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.