ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1034-20G>A

gnomAD frequency: 0.48623  dbSNP: rs12713756
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080336 SCV000112231 benign not specified 2013-07-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000080336 SCV000309711 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000080336 SCV000519289 benign not specified 2016-01-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001527169 SCV001738102 benign Miyoshi muscular dystrophy 1 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664356 SCV001875850 benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664355 SCV001875851 benign Distal myopathy with anterior tibial onset 2021-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055169 SCV002410281 benign Qualitative or quantitative defects of dysferlin 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707921 SCV005240170 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000080336 SCV001740277 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000080336 SCV001923864 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000080336 SCV001956254 benign not specified 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.