ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met)

dbSNP: rs144383140
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000348647 SCV000344694 uncertain significance not provided 2016-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001240482 SCV001413428 likely benign Qualitative or quantitative defects of dysferlin 2024-02-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000348647 SCV001713187 uncertain significance not provided 2020-02-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494891 SCV002790171 uncertain significance Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2021-12-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000348647 SCV003830861 uncertain significance not provided 2019-04-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833403 SCV002082350 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 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.