Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000431568 | SCV000517830 | benign | not specified | 2016-01-28 | 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 | RCV000535955 | SCV000646832 | benign | Familial acute necrotizing encephalopathy | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000535955 | SCV002808899 | likely benign | Familial acute necrotizing encephalopathy | 2022-04-05 | criteria provided, single submitter | clinical testing |