Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000421254 | SCV000517617 | benign | not specified | 2015-12-02 | 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. |
Genome- |
RCV001775790 | SCV002014259 | benign | Combined oxidative phosphorylation deficiency 34 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002064923 | SCV002407906 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing |