Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001475133 | SCV001679321 | likely benign | Glycogen storage disease, type V | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003389876 | SCV004132339 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | PYGM: BP4, BP7 |