Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Genetics of Metabolic Diseases, |
RCV000850047 | SCV000992186 | pathogenic | Hypercholesterolemia, familial, 1 | 2019-01-01 | no assertion criteria provided | clinical testing |