Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Unit for Genetic & Epidemiological Research on Neurological Disorders, |
RCV000516075 | SCV000574485 | uncertain significance | Hereditary spastic paraplegia | 2017-03-07 | criteria provided, single submitter | research | |
Ce |
RCV000487792 | SCV000575080 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | KIF1C: BS2 |
Gene |
RCV000497507 | SCV000589514 | likely benign | not specified | 2017-10-27 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001079974 | SCV000645928 | likely benign | Spastic ataxia 2 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000516075 | SCV002105282 | likely benign | Hereditary spastic paraplegia | 2021-03-29 | criteria provided, single submitter | clinical testing |