Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Genetics and Molecular Cardiology, |
RCV000497091 | SCV000588432 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Ambry Genetics | RCV002356811 | SCV002621505 | uncertain significance | Cardiovascular phenotype | 2022-09-26 | criteria provided, single submitter | clinical testing | The p.R1284W variant (also known as c.3850C>T), located in coding exon 25 of the APOB gene, results from a C to T substitution at nucleotide position 3850. The arginine at codon 1284 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well 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, |
RCV002475982 | SCV002803222 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002475982 | SCV004573113 | benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-11-13 | criteria provided, single submitter | clinical testing |