Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238158 | SCV000294580 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Juno Genomics, |
RCV000238158 | SCV005415885 | pathogenic | Hypercholesterolemia, familial, 1 | criteria provided, single submitter | clinical testing | PM2_Supporting+PVS1+PS4_Supporting |