Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237716 | SCV000294516 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
OMIM | RCV000237716 | SCV000024063 | pathogenic | Hypercholesterolemia, familial, 1 | 1988-11-01 | no assertion criteria provided | literature only |