Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Petrovsky National Research Centre of Surgery, |
RCV000225043 | SCV000268124 | pathogenic | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 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. |