Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000500837 | SCV000588368 | uncertain significance | Hereditary spastic paraplegia 5A | 2017-06-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000614875 | SCV000721292 | likely benign | not specified | 2017-07-20 | 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 | RCV000862733 | SCV001003277 | likely benign | Spastic paraplegia | 2024-01-18 | criteria provided, single submitter | clinical testing |