Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. |
RCV000087096 | SCV000119953 | pathogenic | Tay-Sachs disease | no assertion criteria provided | research |