Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000431319 | SCV000530184 | likely benign | not specified | 2017-12-01 | 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 | RCV000875765 | SCV001018237 | benign | Methylmalonic aciduria, cblB type | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000875765 | SCV002088685 | likely benign | Methylmalonic aciduria, cblB type | 2019-12-06 | no assertion criteria provided | clinical testing |