Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189904 | SCV000243562 | benign | not specified | 2014-06-02 | 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. |
Preventiongenetics, |
RCV000189904 | SCV000305167 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV001797670 | SCV002041444 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001797670 | SCV002469794 | likely benign | Tuberous sclerosis 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003390917 | SCV004133832 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | TSC2: BS1 |