Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000327272 | SCV000427126 | uncertain significance | Familial hypobetalipoproteinemia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000384191 | SCV000427127 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001837871 | SCV000554807 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Fundacion Hipercolesterolemia Familiar | RCV000384191 | SCV000607379 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Gene |
RCV000839705 | SCV000981609 | likely benign | not provided | 2020-03-13 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28475941) |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000839705 | SCV001133401 | likely benign | not provided | 2019-01-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000839705 | SCV001152165 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | APOB: BP4, BP7 |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV001256903 | SCV001433404 | likely benign | not specified | 2020-03-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436195 | SCV002752746 | likely benign | Cardiovascular phenotype | 2023-06-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
GENin |
RCV004820025 | SCV005441539 | likely benign | Familial hypercholesterolemia | 2023-08-04 | criteria provided, single submitter | clinical testing | This is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7). |
Clinical Genetics, |
RCV001256903 | SCV001917886 | benign | not specified | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000839705 | SCV001962882 | likely benign | not provided | no assertion criteria provided | clinical testing |