Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000997060 | SCV001152143 | likely benign | not provided | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002360889 | SCV002666105 | uncertain significance | Cardiovascular phenotype | 2018-09-12 | criteria provided, single submitter | clinical testing | The p.I2292T variant (also known as c.6875T>C), located in coding exon 26 of the APOB gene, results from a T to C substitution at nucleotide position 6875. The isoleucine at codon 2292 is replaced by threonine, an amino acid with 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. |
Invitae | RCV003768390 | SCV004568668 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-05-07 | criteria provided, single submitter | clinical testing |