Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Molecular, |
RCV000167644 | SCV000207460 | pathogenic | Steinert myotonic dystrophy syndrome | no assertion criteria provided | research | DMPK CTG repeat expansions greater than approximately 45-50 repeats are assumed to be pathogenic | |
Institute of Molecular, |
RCV000167644 | SCV000747878 | pathogenic | Steinert myotonic dystrophy syndrome | 2018-03-14 | no assertion criteria provided | research | DMPK CTG repeat expansions greater than approximately 45-50 repeats are assumed to be pathogenic |