Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237347 | SCV000295687 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Robarts Research Institute, |
RCV000237347 | SCV000484743 | likely pathogenic | Hypercholesterolemia, familial, 1 | criteria provided, single submitter | clinical testing | ||
Brunham Lab, |
RCV000237347 | SCV001432595 | pathogenic | Hypercholesterolemia, familial, 1 | 2019-05-10 | criteria provided, single submitter | research | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000237347 | SCV000606527 | pathogenic | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research | ||
Clinical Genetics, |
RCV001699252 | SCV001924911 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV001699252 | SCV001963163 | pathogenic | not provided | no assertion criteria provided | clinical testing |