ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.650del (p.Asn217fs)

dbSNP: rs1553940079
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
Counsyl RCV000671402 SCV000796375 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2017-12-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000671402 SCV002020105 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-11-01 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.