Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250215 | SCV000305226 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000832446 | SCV000974201 | likely benign | not provided | 2018-06-15 | 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. |
KCCC/NGS Laboratory, |
RCV003315574 | SCV004016089 | benign | Tuberous sclerosis 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000043123 | SCV000066922 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |