Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000733478 | SCV000861554 | uncertain significance | not provided | 2018-06-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001838127 | SCV001214767 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002388373 | SCV002697798 | uncertain significance | Cardiovascular phenotype | 2022-04-25 | criteria provided, single submitter | clinical testing | The p.A345T variant (also known as c.1033G>A), located in coding exon 9 of the APOB gene, results from a G to A substitution at nucleotide position 1033. The alanine at codon 345 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |