Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000954227 | SCV001100846 | benign | Congenital disorder of glycosylation, type IIq | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001766797 | SCV002008000 | likely benign | not provided | 2019-09-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001766797 | SCV004126086 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | COG2: BP4, BP7, BS1, BS2 |