Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000912731 | SCV001057846 | likely benign | Pyruvate carboxylase deficiency | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003396542 | SCV004137018 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | PC: BP4, BP7 |