Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000419785 | SCV000512553 | likely benign | not specified | 2016-07-25 | 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 | RCV002521521 | SCV003478019 | benign | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2023-04-03 | criteria provided, single submitter | clinical testing |