Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002244214 | SCV002512593 | uncertain significance | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2021-05-05 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2, PP3 |