Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000945342 | SCV001091342 | benign | MEGF8-related Carpenter syndrome | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003413744 | SCV004139621 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | MEGF8: BP4, BP7 |