Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002241078 | SCV001381825 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252330 | SCV002523678 | uncertain significance | See cases | 2020-04-22 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2, PP3 |