Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000003907 | SCV000294441 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Fundacion Hipercolesterolemia Familiar | RCV000003907 | SCV000607410 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
OMIM | RCV000003907 | SCV000024072 | pathogenic | Hypercholesterolemia, familial, 1 | 2017-11-28 | no assertion criteria provided | literature only | |
Cardiovascular Genetics Laboratory, |
RCV000003907 | SCV000268671 | pathogenic | Hypercholesterolemia, familial, 1 | 2008-07-07 | no assertion criteria provided | clinical testing |