Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cytogenetics and Genomics Lab, |
RCV003138276 | SCV002757998 | pathogenic | Developmental and epileptic encephalopathy, 4 | 2022-10-24 | criteria provided, single submitter | research | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV003138276 | SCV003807200 | likely pathogenic | Developmental and epileptic encephalopathy, 4 | 2022-09-28 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 strong, PM2 moderated |