Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000116364 | SCV000519195 | benign | not specified | 2016-03-02 | 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. |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000606625 | SCV000745416 | benign | Hereditary spastic paraplegia 51 | 2017-06-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000606625 | SCV001623496 | benign | Hereditary spastic paraplegia 51 | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001520603 | SCV001729736 | benign | Spastic paraplegia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000116364 | SCV000150288 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Diagnostic Laboratory, |
RCV000606625 | SCV000733464 | benign | Hereditary spastic paraplegia 51 | no assertion criteria provided | clinical testing |