Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000537465 | SCV000660163 | likely benign | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945345 | SCV004771845 | likely benign | SYNJ1-related disorder | 2019-07-24 | 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). |