Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001539541 | SCV001757328 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001873818 | SCV002294328 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2024-02-01 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 2 of the DSG2 gene. It does not directly change the encoded amino acid sequence of the DSG2 protein. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with DSG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1182019). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |