Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000454449 | SCV000538330 | uncertain significance | not specified | 2016-06-16 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Only 1 report |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284264 | SCV001469947 | uncertain significance | not provided | 2021-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001861656 | SCV002290021 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-08-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365577 | SCV002663832 | uncertain significance | Cardiovascular phenotype | 2020-09-11 | criteria provided, single submitter | clinical testing | The p.R2219C variant (also known as c.6655C>T), located in coding exon 26 of the APOB gene, results from a C to T substitution at nucleotide position 6655. The arginine at codon 2219 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant (referred to as p.R2192C) has been detected in a hypertriglyceridemia cohort; however, details were limited (Johansen CT et al. Nat. Genet., 2010 Aug;42:684-7). This amino acid position is not well conserved in available vertebrate species, and cysteine 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, |
RCV001861656 | SCV002781966 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2021-07-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001284264 | SCV004183719 | uncertain significance | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | APOB: PM2, PS4:Moderate, BP4 |