Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000304529 | SCV000427091 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000343210 | SCV000427092 | uncertain significance | Familial hypobetalipoproteinemia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001837863 | SCV000659282 | benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000610645 | SCV000714966 | 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. |
ARUP Laboratories, |
RCV001812874 | SCV002048568 | likely benign | not provided | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356459 | SCV002623590 | likely benign | Cardiovascular phenotype | 2018-04-18 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001812874 | SCV004218586 | benign | not provided | 2023-08-02 | criteria provided, single submitter | clinical testing |