Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000532777 | SCV000636460 | likely benign | Progressive myoclonic epilepsy | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002497112 | SCV002809612 | likely benign | Action myoclonus-renal failure syndrome | 2022-04-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960298 | SCV004783295 | likely benign | SCARB2-related condition | 2022-12-15 | 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). |