Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000244945 | SCV000303948 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000281029 | SCV000427042 | likely benign | Familial hypercholesterolemia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000423058 | SCV000511852 | benign | not provided | 2017-01-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000473472 | SCV000554825 | benign | Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 | 2018-01-22 | criteria provided, single submitter | clinical testing | |
Laboratory of Genetics and Molecular Cardiology, |
RCV000281029 | SCV000588444 | uncertain significance | Familial hypercholesterolemia | 2016-03-01 | criteria provided, single submitter | research | |
Gene |
RCV000244945 | SCV000730568 | benign | not specified | 2018-01-04 | 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, |
RCV000281029 | SCV000782881 | uncertain significance | Familial hypercholesterolemia | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000423058 | SCV000888791 | benign | not provided | 2018-06-29 | criteria provided, single submitter | clinical testing | |
Color | RCV000776047 | SCV000910656 | benign | Familial hypercholesterolemias | 2017-07-07 | criteria provided, single submitter | clinical testing |