Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000626166 | SCV000746801 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 2017-12-18 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003358 | SCV000023516 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2M | 2009-05-01 | no assertion criteria provided | literature only |