ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1626C>T (p.Asn542=)

gnomAD frequency: 0.00158  dbSNP: rs139495331
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175305 SCV000226772 benign not specified 2014-09-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000175305 SCV000309646 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001704255 SCV000527430 likely benign not provided 2018-12-12 criteria provided, single submitter clinical testing
Invitae RCV000548539 SCV000649610 benign Qualitative or quantitative defects of dysferlin 2024-01-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826883 SCV002079814 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-12-18 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.