Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001838160 | SCV000947798 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Knight Diagnostic Laboratories, |
RCV001270141 | SCV001449037 | uncertain significance | Familial hypobetalipoproteinemia 1 | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001508057 | SCV001713958 | uncertain significance | not provided | 2020-12-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001508057 | SCV001815128 | uncertain significance | not provided | 2022-07-14 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Ambry Genetics | RCV002440612 | SCV002746208 | uncertain significance | Cardiovascular phenotype | 2022-01-18 | criteria provided, single submitter | clinical testing | The p.V3745I variant (also known as c.11233G>A), located in coding exon 26 of the APOB gene, results from a G to A substitution at nucleotide position 11233. The valine at codon 3745 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not 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. |