Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
American College of Medical Genetics and Genomics |
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. |
Gene |
RCV000055840 | SCV000086832 | non-pathogenic | Steinert myotonic dystrophy syndrome | 2013-05-16 | no assertion criteria provided | curation | Converted during submission to Benign. |