Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002493416 | SCV002792848 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2021-07-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003166056 | SCV003862379 | uncertain significance | Inborn genetic diseases | 2023-01-25 | criteria provided, single submitter | clinical testing | The c.6794A>C (p.K2265T) alteration is located in exon 26 (coding exon 26) of the APOB gene. This alteration results from a A to C substitution at nucleotide position 6794, causing the lysine (K) at amino acid position 2265 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |