Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000422961 | SCV000521859 | benign | not specified | 2016-02-12 | 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 | RCV001275779 | SCV001724296 | benign | Isovaleryl-CoA dehydrogenase deficiency | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001275779 | SCV001461290 | benign | Isovaleryl-CoA dehydrogenase deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |