Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237111 | SCV000294575 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Institute of Human Genetics, |
RCV000237111 | SCV001429196 | pathogenic | Hypercholesterolemia, familial, 1 | 2023-05-24 | criteria provided, single submitter | clinical testing | Criteria applied: PS1,PM5_STR,PS4_SUP,PM2_SUP,PP3 |