Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000273652 | SCV000413614 | likely benign | Spastic paraplegia, autosomal dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000828168 | SCV000969850 | likely benign | not provided | 2018-03-21 | 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 | RCV002057519 | SCV002473834 | benign | Spastic paraplegia | 2023-12-15 | criteria provided, single submitter | clinical testing |