Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV000512620 | SCV002807602 | likely pathogenic | Alpha-1-antitrypsin deficiency | 2022-05-10 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000512620 | SCV005056685 | pathogenic | Alpha-1-antitrypsin deficiency | 2024-03-02 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000019589 | SCV000039887 | other | PI NULL(BOLTON) | 2016-07-20 | no assertion criteria provided | literature only | |
OMIM | RCV000019590 | SCV000039888 | other | PI Q0(BOLTON) | 2016-07-20 | no assertion criteria provided | literature only | |
Department of Laboratory Medicine and Genetics, |
RCV000512620 | SCV000608298 | pathogenic | Alpha-1-antitrypsin deficiency | 2014-12-08 | no assertion criteria provided | curation |