Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Petrovsky Russian Research Center of Surgery, |
RCV000225043 | SCV000268124 | pathogenic | Benign scapuloperoneal muscular dystrophy with cardiomyopathy | 2016-04-26 | no assertion criteria provided | clinical testing | The diagnosis of EDMD for the patient was established based on neuromuscular and cardiac symptoms. This variant segregates in the family, and it was not detected in DNA samples of healthy individuals. Sequencing of the target cDNA fragment revealed the insertion between 2 and 3 exons. |