Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001838229 | SCV000953871 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372291 | SCV002688537 | uncertain significance | Cardiovascular phenotype | 2021-12-08 | criteria provided, single submitter | clinical testing | The p.N3026I variant (also known as c.9077A>T), located in coding exon 26 of the APOB gene, results from an A to T substitution at nucleotide position 9077. The asparagine at codon 3026 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is conserved. 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, |
RCV001838229 | SCV002813320 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2021-10-01 | criteria provided, single submitter | clinical testing |