Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000434242 | SCV000522341 | likely benign | not specified | 2017-10-13 | 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 | RCV000550593 | SCV000631883 | benign | Isovaleryl-CoA dehydrogenase deficiency | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001815325 | SCV002063410 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | IVD: BP4, BP7 |
Natera, |
RCV000550593 | SCV002094386 | benign | Isovaleryl-CoA dehydrogenase deficiency | 2017-11-14 | no assertion criteria provided | clinical testing |