Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031551 | SCV001194857 | uncertain significance | Charcot-Marie-Tooth disease dominant intermediate B | 2019-03-07 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 16-17 of the DNM2 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with DNM2-related disease. 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. |