Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV000169765 | SCV000196708 | pathogenic | Pulmonary alveolar proteinosis | 2014-12-02 | no assertion criteria provided | research | |
OMIM | RCV000173000 | SCV000224019 | pathogenic | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | 2015-05-07 | no assertion criteria provided | literature only |