Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000428797 | SCV000518794 | benign | not specified | 2016-10-11 | 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 | RCV000533259 | SCV000646826 | benign | Familial acute necrotizing encephalopathy | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003437172 | SCV004148985 | benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | RANBP2: BP4, BS1, BS2 |