Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002189423 | SCV002347021 | likely benign | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
ISTH- |
RCV002222078 | SCV002499627 | uncertain significance | Paroxysmal nocturnal hemoglobinuria 1 | criteria provided, single submitter | clinical testing |