Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000874003 | SCV001016116 | likely benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585842 | SCV001819585 | likely benign | not provided | 2020-05-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001585842 | SCV004154307 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | POMGNT2: BP4, BP7 |