Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000840934 | SCV000982883 | likely benign | not provided | 2018-03-23 | 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 | RCV001858437 | SCV002276691 | likely benign | Tuberous sclerosis 2 | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501173 | SCV002806436 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2021-12-16 | criteria provided, single submitter | clinical testing |