Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001295367 | SCV001484285 | uncertain significance | not provided | 2021-08-13 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000032805 | SCV000056573 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 2012-12-07 | no assertion criteria provided | literature only |