Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000254106 | SCV000310811 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000254106 | SCV000517490 | benign | not specified | 2015-12-02 | 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 | RCV001510699 | SCV001717803 | benign | Methylmalonic acidemia with homocystinuria, type cblJ | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001510699 | SCV001768934 | benign | Methylmalonic acidemia with homocystinuria, type cblJ | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000254106 | SCV002050707 | likely benign | not specified | 2021-12-03 | criteria provided, single submitter | clinical testing |