Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001838097 | SCV000817927 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-10-21 | criteria provided, single submitter | clinical testing | |
| New York Genome Center | RCV001838097 | SCV003925269 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2022-09-12 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004025046 | SCV005034975 | likely benign | Cardiovascular phenotype | 2023-12-19 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV004997155 | SCV005624811 | uncertain significance | not provided | 2024-02-29 | criteria provided, single submitter | clinical testing | The APOB c.4056_4064dup (p.Gly1354_Leu1356dup) variant does not alter the translational reading frame and has not been reported in individuals with APOB-related conditions in the published literature. The frequency of this variant in the general population, 0.00087 (31/35440 chromosomes in Admixed American subpopulation (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is higher than would generally be expected for pathogenic variants in this gene. Based on the available information, we are unable to determine the clinical significance of this variant. |