Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000003889 | SCV000295093 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Laboratory of Genetics and Molecular Cardiology, |
RCV000003889 | SCV000588529 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Fundacion Hipercolesterolemia Familiar | RCV000003889 | SCV000607530 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
OMIM | RCV000003889 | SCV000024054 | pathogenic | Hypercholesterolemia, familial, 1 | 1988-12-01 | no assertion criteria provided | literature only | |
OMIM | RCV000575461 | SCV000676910 | pathogenic | FH LEIDEN 1 | 1988-12-01 | no assertion criteria provided | literature only |