Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001838161 | SCV001420884 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002424770 | SCV002741970 | uncertain significance | Cardiovascular phenotype | 2022-09-13 | criteria provided, single submitter | clinical testing | The p.K3673R variant (also known as c.11018A>G), located in coding exon 26 of the APOB gene, results from an A to G substitution at nucleotide position 11018. The lysine at codon 3673 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and arginine 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, |
RCV001838161 | SCV002792889 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2021-07-22 | criteria provided, single submitter | clinical testing |