Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Robarts Research Institute, |
RCV000660702 | SCV000782887 | uncertain significance | Hypercholesterolemia, familial, 1 | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001838085 | SCV000934706 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-07-10 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV002261165 | SCV002541789 | uncertain significance | not provided | 2021-06-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002369785 | SCV002684495 | uncertain significance | Cardiovascular phenotype | 2021-04-29 | criteria provided, single submitter | clinical testing | The p.L2898P variant (also known as c.8693T>C), located in coding exon 26 of the APOB gene, results from a T to C substitution at nucleotide position 8693. The leucine at codon 2898 is replaced by proline, an amino acid with 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. |
Fulgent Genetics, |
RCV001838085 | SCV002790426 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2021-09-07 | criteria provided, single submitter | clinical testing |