Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV002247494 | SCV002516493 | pathogenic | Tay-Sachs disease, variant AB | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. |
RCV000087094 | SCV000119951 | pathogenic | Tay-Sachs disease | no assertion criteria provided | research |