Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000945712 | SCV001091757 | likely benign | RFT1-congenital disorder of glycosylation | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003438612 | SCV004150334 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | RFT1: BP4, BP7 |