Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117268 | SCV000151442 | likely benign | not specified | 2013-09-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000117268 | SCV000516920 | benign | not specified | 2016-06-17 | 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 | RCV000530137 | SCV000634581 | benign | Familial aplasia of the vermis | 2024-01-29 | criteria provided, single submitter | clinical testing |