Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001838235 | SCV000957062 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-07-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001772117 | SCV001994155 | uncertain significance | not provided | 2019-07-11 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002406861 | SCV002669588 | uncertain significance | Cardiovascular phenotype | 2021-12-29 | criteria provided, single submitter | clinical testing | The p.Q2608P variant (also known as c.7823A>C), located in coding exon 26 of the APOB gene, results from an A to C substitution at nucleotide position 7823. The glutamine at codon 2608 is replaced by proline, an amino acid with similar 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. |