Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001485244 | SCV001689676 | likely benign | Familial hypercholesterolemia | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001485244 | SCV002053530 | likely benign | Familial hypercholesterolemia | 2021-05-20 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004007158 | SCV004820127 | likely benign | Hypercholesterolemia, familial, 1 | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004037250 | SCV005035836 | likely benign | Cardiovascular phenotype | 2024-01-13 | 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. |