Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cardiovascular Research Group, |
RCV000256236 | SCV000322828 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Color Diagnostics, |
RCV000256236 | SCV000687274 | likely benign | Hypercholesterolemia, familial, 1 | 2017-07-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000615708 | SCV000718521 | likely benign | not specified | 2017-12-07 | 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. |
Invitae | RCV002059059 | SCV002380940 | benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-01-31 | criteria provided, single submitter | clinical testing |