Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535226 | SCV000644262 | benign | Tuberous sclerosis 2 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002497147 | SCV002808508 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2022-02-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935465 | SCV004750671 | likely benign | TSC2-related condition | 2023-12-14 | 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). |