Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000253809 | SCV000310814 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000253809 | SCV000517489 | benign | not specified | 2015-12-02 | 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 | RCV001514647 | SCV001722543 | benign | Methylmalonic acidemia with homocystinuria, type cblJ | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001514647 | SCV001768935 | benign | Methylmalonic acidemia with homocystinuria, type cblJ | 2021-07-14 | criteria provided, single submitter | clinical testing |