Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878889 | SCV001021876 | likely benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 2023-08-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003432865 | SCV004154310 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | POMGNT2: BP4, BP7 |