Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000528079 | SCV000654091 | likely benign | Congenital disorder of deglycosylation | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003431105 | SCV004149321 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | NGLY1: BP4 |