Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000333253 | SCV000427100 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000385388 | SCV000427101 | uncertain significance | Familial hypobetalipoproteinemia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Robarts Research Institute, |
RCV000333253 | SCV000782847 | uncertain significance | Hypercholesterolemia, familial, 1 | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001837865 | SCV001007336 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002450903 | SCV002615251 | likely benign | Cardiovascular phenotype | 2022-02-16 | 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 | RCV003477899 | SCV004222003 | uncertain significance | not provided | 2023-05-19 | criteria provided, single submitter | clinical testing | To the best of our knowledge, this variant has not been reported in individuals with APOB-related conditions in the published literature. The frequency of this variant in the general population, 0.00069 (21/30616 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant. |