Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000524929 | SCV000660151 | likely benign | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2023-08-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003884644 | SCV004701240 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | SYNJ1: BP4, BP7 |
Prevention |
RCV003925744 | SCV004750604 | likely benign | SYNJ1-related disorder | 2019-04-12 | 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). |