Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001181334 | SCV001346459 | likely benign | Familial hypercholesterolemia | 2017-07-17 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001181334 | SCV001682342 | likely benign | Familial hypercholesterolemia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002339454 | SCV002642145 | likely benign | Cardiovascular phenotype | 2020-12-16 | 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, |
RCV004006734 | SCV004820172 | likely benign | Hypercholesterolemia, familial, 1 | 2024-02-05 | criteria provided, single submitter | clinical testing |