Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996762 | SCV001151675 | likely benign | not provided | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001805963 | SCV002052761 | likely benign | Familial hypercholesterolemia | 2021-03-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001805963 | SCV002375296 | likely benign | Familial hypercholesterolemia | 2023-11-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002454243 | SCV002738962 | likely benign | Cardiovascular phenotype | 2020-11-15 | 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, |
RCV004004440 | SCV004820698 | likely benign | Hypercholesterolemia, familial, 1 | 2024-07-29 | criteria provided, single submitter | clinical testing |