Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187769 | SCV000241366 | benign | not specified | 2014-10-16 | 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 | RCV000548953 | SCV000645027 | benign | Koolen-de Vries syndrome | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000548953 | SCV002807934 | likely benign | Koolen-de Vries syndrome | 2021-10-06 | criteria provided, single submitter | clinical testing |