Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000651489 | SCV000773341 | likely benign | Congenital disorder of deglycosylation | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001584503 | SCV001811324 | likely benign | not provided | 2021-02-22 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25344691) |
Ce |
RCV001584503 | SCV004185045 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | NGLY1: BP4 |