Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002064500 | SCV002359488 | likely benign | MEGF8-related Carpenter syndrome | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003424391 | SCV004139643 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | MEGF8: BP4, BP7 |