Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000458471 | SCV000556485 | likely benign | Tuberous sclerosis 2 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000607327 | SCV000726818 | likely benign | not specified | 2018-01-12 | 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- |
RCV000458471 | SCV002039211 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257737 | SCV002531082 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-25 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002496801 | SCV002799470 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2022-05-31 | criteria provided, single submitter | clinical testing |