Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000758758 | SCV000887573 | uncertain significance | not provided | 2018-07-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001838131 | SCV001533211 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-07-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000758758 | SCV001997673 | uncertain significance | not provided | 2020-01-07 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported as a variant of uncertain significance by another clinical laboratory in ClinVar (ClinVar Variant ID# 619615; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Ambry Genetics | RCV002370013 | SCV002683789 | uncertain significance | Cardiovascular phenotype | 2021-12-20 | criteria provided, single submitter | clinical testing | The p.R3136H variant (also known as c.9407G>A), located in coding exon 26 of the APOB gene, results from a G to A substitution at nucleotide position 9407. The arginine at codon 3136 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is poorly 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, |
RCV001838131 | SCV002775653 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2021-09-21 | criteria provided, single submitter | clinical testing |