Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000126395 | SCV000169899 | benign | not specified | 2013-10-28 | 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 | RCV001085482 | SCV000286308 | benign | Koolen-de Vries syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712037 | SCV000842451 | benign | not provided | 2018-04-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001085482 | SCV002805021 | likely benign | Koolen-de Vries syndrome | 2021-07-24 | criteria provided, single submitter | clinical testing |