Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000441117 | SCV000520006 | likely benign | not specified | 2015-10-07 | 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 | RCV002062378 | SCV002459524 | likely benign | Tuberous sclerosis 2 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257672 | SCV002533339 | likely benign | Hereditary cancer-predisposing syndrome | 2020-12-24 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002506029 | SCV002804922 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2022-05-05 | criteria provided, single submitter | clinical testing |