Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000445279 | SCV000534356 | likely benign | not specified | 2016-12-01 | 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 | RCV000861393 | SCV001001693 | likely benign | Joubert syndrome 8 | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000445279 | SCV003839937 | likely benign | not specified | 2022-12-19 | no assertion criteria provided | clinical testing |