Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000211620 | SCV000294456 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Genetics and Molecular Pathology, |
RCV000211620 | SCV004175362 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Cardiovascular Genetics Laboratory, |
RCV000211620 | SCV000268539 | pathogenic | Hypercholesterolemia, familial, 1 | 2013-07-10 | no assertion criteria provided | clinical testing | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000211620 | SCV000606009 | pathogenic | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research |