Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169508 | SCV000220973 | pathogenic | Alpha-1-antitrypsin deficiency | 2014-12-18 | criteria provided, single submitter | literature only | |
OMIM | RCV000019608 | SCV000039906 | other | PI S(IIYAMA) | 2016-07-15 | no assertion criteria provided | literature only | |
Gene |
RCV000169508 | SCV000256615 | not provided | Alpha-1-antitrypsin deficiency | no assertion provided | literature only | ||
Department of Laboratory Medicine and Genetics, |
RCV000169508 | SCV000608309 | pathogenic | Alpha-1-antitrypsin deficiency | 2014-12-08 | no assertion criteria provided | curation | Reduced enzyme activity |