Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189933 | SCV000243600 | benign | not specified | 2012-09-14 | 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 | RCV000234580 | SCV000285413 | benign | Tuberous sclerosis 2 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000234580 | SCV002039504 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |