Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000604784 | SCV000722521 | likely benign | not specified | 2017-08-31 | 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. |
Labcorp Genetics |
RCV002065261 | SCV002403360 | benign | Methylmalonic acidemia due to transcobalamin receptor defect | 2023-11-21 | criteria provided, single submitter | clinical testing |