Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000914757 | SCV001059942 | likely benign | Glycogen storage disease, type V | 2024-01-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003396543 | SCV004135030 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | PYGM: BP4, BP7 |
Natera, |
RCV000914757 | SCV001452663 | uncertain significance | Glycogen storage disease, type V | 2020-04-14 | no assertion criteria provided | clinical testing |