Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002477341 | SCV002782041 | pathogenic | Polyglucosan body myopathy type 1 | 2022-05-24 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001840048 | SCV000172495 | pathogenic | Polyglucosan body myopathy 1 without immunodeficiency | 2013-12-01 | no assertion criteria provided | literature only |