Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Developmental Genetics Unit, |
RCV000162167 | SCV000196453 | likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | 2014-12-01 | no assertion criteria provided | research | |
OMIM | RCV000417196 | SCV000502997 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 | 2018-01-16 | no assertion criteria provided | literature only |