Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000419142 | SCV000535862 | likely benign | not specified | 2017-01-04 | 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 | RCV001485639 | SCV001690082 | likely benign | Methylmalonic acidemia with homocystinuria, type cblJ | 2023-08-10 | criteria provided, single submitter | clinical testing |