Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000871018 | SCV001012613 | benign | MEGF8-related Carpenter syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002249563 | SCV002520318 | likely benign | not provided | 2021-10-17 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ce |
RCV002249563 | SCV004139625 | benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | MEGF8: BP4, BP7, BS1, BS2 |