Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000443203 | SCV000523198 | likely benign | not specified | 2017-09-01 | 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 | RCV000872422 | SCV001014230 | benign | Methylcobalamin deficiency type cblE | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000872422 | SCV002084992 | likely benign | Methylcobalamin deficiency type cblE | 2019-12-17 | no assertion criteria provided | clinical testing |