Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000636346 | SCV000757785 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252185 | SCV002523830 | uncertain significance | See cases | 2020-10-21 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PP2, PP3 |