ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2864+8G>A

gnomAD frequency: 0.00011  dbSNP: rs371686795
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) RCV000308748 SCV000337603 uncertain significance not provided 2015-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086799 SCV000769848 likely benign Qualitative or quantitative defects of dysferlin 2024-09-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271798 SCV001453238 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003939998 SCV004754513 likely benign DYSF-related disorder 2019-06-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.