Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000228846 | SCV000285251 | benign | Tuberous sclerosis 2 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000609241 | SCV000732557 | likely benign | not specified | 2017-10-03 | 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- |
RCV000228846 | SCV002041357 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000228846 | SCV004016176 | likely benign | Tuberous sclerosis 2 | 2023-07-07 | criteria provided, single submitter | clinical testing |