Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000832744 | SCV000974500 | benign | not provided | 2018-06-14 | 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. |
Genome- |
RCV001542905 | SCV001761306 | benign | Agenesis of the corpus callosum with peripheral neuropathy | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000147477 | SCV000194913 | likely benign | not specified | no assertion criteria provided | clinical testing |