Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002244200 | SCV002512566 | uncertain significance | Neurodevelopmental disorder with or without early-onset generalized epilepsy | 2021-10-29 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 moderate, BP4 supporting |