Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000211674 | SCV000294779 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Cardiovascular Genetics Laboratory, |
RCV000211674 | SCV000268569 | pathogenic | Hypercholesterolemia, familial, 1 | 2011-09-30 | no assertion criteria provided | clinical testing |