Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Neurology and Neurophysiology, |
RCV000735807 | SCV000778823 | uncertain significance | Hereditary spastic paraplegia 77 | 2018-06-27 | no assertion criteria provided | case-control | This variant along with a deletion of exon 6 on the other chromosome copy results in a phenotype of slowly progressive diplegia, dysphonia and tremor. Similar to Spastic Paraplegia 77 but with a more progressive phenotype. |