Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000273079 | SCV000427096 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000307155 | SCV000427097 | uncertain significance | Familial hypobetalipoproteinemia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001837864 | SCV000777080 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002275025 | SCV002562612 | uncertain significance | not provided | 2023-01-17 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |
Ambry Genetics | RCV002356460 | SCV002624948 | uncertain significance | Cardiovascular phenotype | 2019-07-16 | criteria provided, single submitter | clinical testing | The p.L1238I variant (also known as c.3712C>A), located in coding exon 24 of the APOB gene, results from a C to A substitution at nucleotide position 3712. The leucine at codon 1238 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |