Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878129 | SCV001020985 | likely benign | MEGF8-related Carpenter syndrome | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001311536 | SCV001501737 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | MEGF8: BP4, BP7 |