Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000710046 | SCV000840423 | uncertain significance | Familial isolated dilated cardiomyopathy | 2018-04-20 | criteria provided, single submitter | clinical testing | This variant was identified in a very young patient (11) with dilated cardiomyopathy. Anotther pathogenic variant in TNNT2 gene was also identified in this patient, and our hypothesis is that the combination of these two variants int TNNT2 and DSG2 genes explain the particularly severe phenotype for a so young patient. |