Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002244130 | SCV002512430 | likely pathogenic | Ehlers-danlos syndrome, arthrochalasia type, 2 | 2021-12-28 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 very strong, PM2 moderate |