Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000988253 | SCV001137904 | pathogenic | Developmental and epileptic encephalopathy, 4 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000988253 | SCV003807460 | likely pathogenic | Developmental and epileptic encephalopathy, 4 | 2022-10-14 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 very strong, PM2 moderated |