Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146612 | SCV000193914 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000146612 | SCV000513939 | benign | not specified | 2016-12-07 | 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. |
Genome- |
RCV001807083 | SCV002055935 | benign | Cornelia de Lange syndrome 1 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001807083 | SCV002471974 | benign | Cornelia de Lange syndrome 1 | 2024-02-01 | criteria provided, single submitter | clinical testing |