Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000609597 | SCV000716731 | likely benign | not specified | 2018-02-12 | 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 | RCV002063025 | SCV002477897 | likely benign | Pyruvate dehydrogenase E1-beta deficiency | 2024-01-09 | criteria provided, single submitter | clinical testing |