Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002244254 | SCV002512673 | uncertain significance | Congenital omphalocele; Congenital contracture | 2021-05-10 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 moderate |