Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Genetica e Diagnostico Molecular, |
RCV003142255 | SCV003807695 | pathogenic | Hyper-IgM syndrome type 1 | 2022-08-11 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 strong, PS4 strong, PM2 moderated |