Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000610830 | SCV000723853 | likely benign | not specified | 2017-10-19 | 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 | RCV002054848 | SCV002420257 | likely benign | Tuberous sclerosis 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042818 | SCV000066614 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |