Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001179827 | SCV001344614 | likely benign | Familial hypercholesterolemia | 2019-01-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001179827 | SCV001599867 | likely benign | Familial hypercholesterolemia | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002445424 | SCV002735048 | likely benign | Cardiovascular phenotype | 2021-08-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Fulgent Genetics, |
RCV002491521 | SCV002799174 | likely benign | Hypercholesterolemia, familial, 1 | 2021-09-20 | criteria provided, single submitter | clinical testing |