Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666182 | SCV000790430 | likely pathogenic | Glycogen storage disease, type II | 2017-03-22 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000666182 | SCV000024418 | pathogenic | Glycogen storage disease, type II | 2007-09-01 | no assertion criteria provided | literature only |