Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000472452 | SCV000556550 | likely benign | Tuberous sclerosis 2 | 2023-04-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003899954 | SCV004711805 | likely benign | TSC2-related condition | 2023-11-06 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |