Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666237 | SCV000790495 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-03-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763506 | SCV000894296 | likely pathogenic | Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Myopathy, distal, with anterior tibial onset | 2018-10-31 | criteria provided, single submitter | clinical testing |