Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000429378 | SCV000526145 | likely benign | not specified | 2017-12-08 | 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 | RCV000957492 | SCV001104298 | benign | Combined malonic and methylmalonic acidemia | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000957492 | SCV002092426 | benign | Combined malonic and methylmalonic acidemia | 2020-09-15 | no assertion criteria provided | clinical testing |