Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000227581 | SCV000284761 | benign | Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 | 2018-01-03 | criteria provided, single submitter | clinical testing | |
Division of Genomic Diagnostics, |
RCV000239033 | SCV000296913 | benign | Familial hypercholesterolemia | 2015-10-18 | criteria provided, single submitter | clinical testing | |
Laboratory of Genetics and Molecular Cardiology, |
RCV000239033 | SCV000588465 | uncertain significance | Familial hypercholesterolemia | 2016-03-01 | criteria provided, single submitter | research | |
Fundacion Hipercolesterolemia Familiar | RCV000239033 | SCV000607388 | uncertain significance | Familial hypercholesterolemia | 2016-03-01 | criteria provided, single submitter | research | |
Color | RCV000239033 | SCV000687202 | likely benign | Familial hypercholesterolemia | 2017-06-27 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000597586 | SCV000705583 | benign | not specified | 2017-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000597586 | SCV000730071 | likely benign | not specified | 2017-12-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Robarts Research Institute, |
RCV000239033 | SCV000782810 | likely benign | Familial hypercholesterolemia | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000758756 | SCV000887571 | benign | not provided | 2018-05-19 | criteria provided, single submitter | clinical testing | |
Color | RCV000771078 | SCV000902612 | benign | Familial hypercholesterolemias | 2018-06-29 | criteria provided, single submitter | clinical testing |