Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000698309 | SCV000826969 | likely benign | Familial hypercholesterolemia | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000698309 | SCV001359440 | likely benign | Familial hypercholesterolemia | 2019-07-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002369905 | SCV002686209 | likely benign | Cardiovascular phenotype | 2020-12-07 | 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, |
RCV003999679 | SCV004820226 | likely benign | Hypercholesterolemia, familial, 1 | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000698309 | SCV002086392 | uncertain significance | Familial hypercholesterolemia | 2019-10-28 | no assertion criteria provided | clinical testing |