Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000126623 | SCV000170130 | benign | not specified | 2013-10-08 | 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 | RCV001517034 | SCV001725424 | benign | Lipoic acid synthetase deficiency | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001517034 | SCV001981365 | benign | Lipoic acid synthetase deficiency | 2021-08-19 | criteria provided, single submitter | clinical testing |