Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000470335 | SCV000556790 | likely benign | Familial hypercholesterolemia | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000470335 | SCV001351730 | likely benign | Familial hypercholesterolemia | 2018-11-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374836 | SCV002686948 | likely benign | Cardiovascular phenotype | 2021-03-07 | 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, |
RCV004002111 | SCV004820237 | likely benign | Hypercholesterolemia, familial, 1 | 2023-12-13 | criteria provided, single submitter | clinical testing |