Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000211664 | SCV000295490 | likely benign | Familial hypercholesterolemia 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000211664 | SCV000503362 | likely benign | Familial hypercholesterolemia 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subjects mutated among 2600 FH index cases screened = 2/Software predictions: Benign |
Laboratory of Genetics and Molecular Cardiology, |
RCV000211664 | SCV000588584 | uncertain significance | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Robarts Research Institute, |
RCV000211664 | SCV000782918 | likely benign | Familial hypercholesterolemia 1 | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000996754 | SCV001151662 | uncertain significance | not provided | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Color | RCV001177035 | SCV001341145 | uncertain significance | Familial hypercholesterolemia | 2018-11-04 | criteria provided, single submitter | clinical testing | |
Cardiovascular Genetics Laboratory, |
RCV000211664 | SCV000268620 | uncertain significance | Familial hypercholesterolemia 1 | 2008-06-27 | no assertion criteria provided | clinical testing | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000211664 | SCV000606451 | benign | Familial hypercholesterolemia 1 | no assertion criteria provided | research |