Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002060353 | SCV002441630 | benign | MEGF8-related Carpenter syndrome | 2022-10-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003424136 | SCV004139631 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | MEGF8: BP4, BP7 |