ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6118-13T>G

gnomAD frequency: 0.00004  dbSNP: rs750033728
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215170 SCV000271670 uncertain significance not specified 2015-09-09 criteria provided, single submitter clinical testing The c.6118-13T>G variant in DMD has not been previously reported in individuals with cardiomyopathy. Data from large population studies is insufficient to asses s the frequency of this variant but the variant has been identified in 1/160 of European chromosomes by the 1000 Genomes Project (dbSNP rs750033728). This varia nt is located in the 3' splice region. Computational tools do not suggest an imp act to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.6118-13T>G variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002057166 SCV002483612 likely benign Duchenne muscular dystrophy 2024-04-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000215170 SCV004038119 likely benign not specified 2023-08-19 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.