Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703665 | SCV000520729 | likely benign | not provided | 2020-12-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000552256 | SCV000654075 | benign | Congenital disorder of deglycosylation | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001703665 | SCV004149319 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | NGLY1: BP4, BP7 |