Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001838143 | SCV001408785 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-10-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343621 | SCV002646692 | uncertain significance | Cardiovascular phenotype | 2022-10-07 | criteria provided, single submitter | clinical testing | The p.T1796S variant (also known as c.5387C>G), located in coding exon 26 of the APOB gene, results from a C to G substitution at nucleotide position 5387. The threonine at codon 1796 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other 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, |
RCV001838143 | SCV002777251 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2021-08-03 | criteria provided, single submitter | clinical testing |