Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543524 | SCV000648081 | likely benign | Rhabdoid tumor predisposition syndrome 2 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000605453 | SCV000732785 | likely benign | not specified | 2017-06-28 | 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. |
Genome- |
RCV001809524 | SCV002056214 | likely benign | Intellectual disability, autosomal dominant 16 | 2021-07-15 | criteria provided, single submitter | clinical testing |