Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001210433 | SCV001381921 | uncertain significance | Charcot-Marie-Tooth disease dominant intermediate B | 2019-08-24 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with proline at codon 869 of the DNM2 protein (p.Leu869Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant has not been reported in the literature in individuals with DNM2-related conditions. This variant is not present in population databases (ExAC no frequency). 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. |
Revvity Omics, |
RCV003145384 | SCV003830513 | uncertain significance | not provided | 2019-05-07 | criteria provided, single submitter | clinical testing |