Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000347230 | SCV000341225 | uncertain significance | not provided | 2016-04-15 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000032812 | SCV000056580 | pathogenic | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 2012-12-07 | no assertion criteria provided | literature only |