Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000024606 | SCV000045915 | pathogenic | Johanson-Blizzard syndrome | 2008-07-15 | no assertion criteria provided | literature only | |
Biochemical Molecular Genetic Laboratory, |
RCV000024606 | SCV001133141 | pathogenic | Johanson-Blizzard syndrome | 2019-09-26 | no assertion criteria provided | clinical testing |