Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000455519 | SCV000538332 | uncertain significance | not specified | 2016-06-23 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency |
Laboratory of Genetics and Molecular Cardiology, |
RCV000497114 | SCV000588458 | uncertain significance | Familial hypercholesterolemia | 2016-03-01 | criteria provided, single submitter | research | |
Invitae | RCV000527382 | SCV000659255 | benign | Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 | 2017-12-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000455519 | SCV000730563 | benign | not specified | 2017-07-12 | 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. |
Color | RCV000776107 | SCV000910952 | likely benign | Familial hypercholesterolemias | 2017-09-01 | criteria provided, single submitter | clinical testing |