Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001838124 | SCV000836825 | benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-11-14 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002397493 | SCV002669250 | likely benign | Cardiovascular phenotype | 2020-03-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
| Fulgent Genetics, |
RCV001838124 | SCV002816247 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2021-09-20 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV003736895 | SCV004562452 | uncertain significance | not provided | 2023-08-17 | criteria provided, single submitter | clinical testing | The APOB c.7727G>A; p.Arg2576His variant (rs759057929), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 583390). This variant is found in the general population with an overall allele frequency of 0.003% (9/282,240 alleles) in the Genome Aggregation Database. Computational analyses predict that this variant is neutral (REVEL: 0.057). However, given the lack of clinical and functional data, the significance of this variant is uncertain at this time. |