ClinVar Miner

Submissions for variant NM_004409.4(DMPK):c.*224CTG[(35_49)]

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
American College of Medical Genetics and Genomics (ACMG) RCV000055840 SCV001424572 other Steinert myotonic dystrophy syndrome 2015-10-08 practice guideline curation DM1 premutation alleles are often identified in distant relatives of DM1 probands. These alleles are not associated with a clinical phenotype in the carrier but are unstable and liable to expand in succeeding generations.
GeneReviews RCV000055840 SCV000086832 non-pathogenic Steinert myotonic dystrophy syndrome 2013-05-16 no assertion criteria provided curation Converted during submission to Benign.

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.