Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000872618 | SCV001014465 | likely benign | MEGF8-related Carpenter syndrome | 2023-08-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003389740 | SCV001746582 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | MEGF8: BP4, BP7 |