Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237717 | SCV000295579 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Cardiovascular Research Group, |
RCV000237717 | SCV000599378 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | curation | |
Color Diagnostics, |
RCV003581631 | SCV004358539 | pathogenic | Familial hypercholesterolemia | 2023-01-06 | criteria provided, single submitter | clinical testing |