Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002418627 | SCV002726010 | uncertain significance | Cardiovascular phenotype | 2023-07-12 | criteria provided, single submitter | clinical testing | The p.F705L variant (also known as c.2115T>G), located in coding exon 15 of the APOB gene, results from a T to G substitution at nucleotide position 2115. The phenylalanine at codon 705 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
Fulgent Genetics, |
RCV002491537 | SCV002781745 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2021-07-13 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002491537 | SCV003450559 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-12-02 | criteria provided, single submitter | clinical testing |