Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001185533 | SCV001351771 | likely benign | Familial hypercholesterolemia | 2020-03-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001185533 | SCV001633190 | likely benign | Familial hypercholesterolemia | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002451384 | SCV002735953 | likely benign | Cardiovascular phenotype | 2021-09-07 | 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. |