Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002243626 | SCV002512414 | likely pathogenic | Pheochromocytoma | 2021-11-30 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 strong, PS4 supporting, PM2 moderate |
OMIM | RCV000007298 | SCV000027494 | pathogenic | Paragangliomas 1 | 2000-12-15 | no assertion criteria provided | literature only |