Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238262 | SCV000295706 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Laboratory of Genetics and Molecular Cardiology, |
RCV000238262 | SCV000588614 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Fundacion Hipercolesterolemia Familiar | RCV000238262 | SCV000607646 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
OMIM | RCV000238262 | SCV000024075 | pathogenic | Hypercholesterolemia, familial, 1 | 1988-03-01 | no assertion criteria provided | literature only |