Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
James R Lupski Laboratory, |
RCV000993851 | SCV000930020 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2019-07-01 | criteria provided, single submitter | research |