Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000252120 | SCV000305229 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000252120 | SCV000518883 | likely benign | not specified | 2017-04-06 | 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- |
RCV001797603 | SCV002039505 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001797603 | SCV002436516 | likely benign | Tuberous sclerosis 2 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490593 | SCV002798517 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2021-12-14 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042742 | SCV000066537 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |