Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000663433 | SCV003807106 | likely pathogenic | Proteasome-associated autoinflammatory syndrome 3 | 2022-05-27 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS4 supporting, PM1 moderated, PM2 moderated, PM3 supporting, BP4 supporting |
OMIM | RCV000663433 | SCV000786722 | pathogenic | Proteasome-associated autoinflammatory syndrome 3 | 2024-05-14 | no assertion criteria provided | literature only |