Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000531845 | SCV000644150 | benign | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000605698 | SCV000730301 | benign | not specified | 2017-05-25 | 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. |
Natera, |
RCV001271398 | SCV001452524 | benign | Methylcrotonyl-CoA carboxylase deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |