Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002057781 | SCV002432872 | likely benign | Glutamate formiminotransferase deficiency | 2021-10-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003457675 | SCV004183945 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | FTCD: BP4, BS2 |