Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000019566 | SCV000039863 | other | PI M(MINERAL SPRINGS) | 2016-07-15 | no assertion criteria provided | literature only | |
Gene |
RCV000201855 | SCV000256623 | pathogenic | Alpha-1-antitrypsin deficiency | 2014-05-01 | no assertion criteria provided | literature only | |
Department of Laboratory Medicine and Genetics, |
RCV000201855 | SCV000608310 | pathogenic | Alpha-1-antitrypsin deficiency | 2014-12-08 | no assertion criteria provided | curation | Reduced enzyme activity |