Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552903 | SCV000652880 | benign | MEGF8-related Carpenter syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001531471 | SCV001746583 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | MEGF8: BP4, BP7, BS2 |
Gene |
RCV001531471 | SCV001830685 | likely benign | not provided | 2021-03-31 | criteria provided, single submitter | clinical testing |