Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001525085 | SCV001735101 | likely benign | Familial hypercholesterolemia | 2020-11-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001525085 | SCV002331190 | likely benign | Familial hypercholesterolemia | 2023-04-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002421172 | SCV002728248 | likely benign | Cardiovascular phenotype | 2021-07-08 | 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. |
All of Us Research Program, |
RCV004008817 | SCV004818487 | likely benign | Hypercholesterolemia, familial, 1 | 2023-10-02 | criteria provided, single submitter | clinical testing |