Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000003909 | SCV000294520 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
OMIM | RCV000003909 | SCV000024074 | pathogenic | Hypercholesterolemia, familial, 1 | 2017-11-28 | no assertion criteria provided | literature only |