Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000826295 | SCV000967878 | likely benign | not provided | 2018-05-22 | 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 |
RCV002067427 | SCV002433853 | benign | Methylmalonic acidemia with homocystinuria, type cblX | 2024-01-10 | criteria provided, single submitter | clinical testing |