Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Alexion Pharmaceuticals, |
RCV000857263 | SCV000999852 | likely pathogenic | Lysosomal acid lipase deficiency | 2019-06-01 | criteria provided, single submitter | research | |
Suma Genomics | RCV000857263 | SCV002543767 | likely pathogenic | Lysosomal acid lipase deficiency | criteria provided, single submitter | clinical testing |