Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703792 | SCV000523593 | likely benign | not provided | 2020-03-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000533047 | SCV000653545 | benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001703792 | SCV004126140 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | B3GALNT2: BP4, BP7 |