Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002422665 | SCV002677198 | uncertain significance | Cardiovascular phenotype | 2022-10-25 | criteria provided, single submitter | clinical testing | The p.S2660F variant (also known as c.7979C>T), located in coding exon 26 of the APOB gene, results from a C to T substitution at nucleotide position 7979. The serine at codon 2660 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is 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, |
RCV002487596 | SCV002775518 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2021-08-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002487596 | SCV004594984 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-01-31 | criteria provided, single submitter | clinical testing |