Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002244171 | SCV002512522 | likely pathogenic | Vertebral, cardiac, renal, and limb defects syndrome 1 | 2021-07-13 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 very strong, PM2 |