Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Genetics and Mitochondrial Research group, |
RCV001290339 | SCV001478392 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2020-06-01 | criteria provided, single submitter | case-control |