Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000558962 | SCV000639917 | likely benign | Developmental and epileptic encephalopathy, 8 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000558962 | SCV002805900 | likely benign | Developmental and epileptic encephalopathy, 8 | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003437256 | SCV004165186 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | ARHGEF9: BS2 |
Prevention |
RCV003960315 | SCV004773929 | likely benign | ARHGEF9-related condition | 2023-05-10 | 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). |