Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001178324 | SCV001342728 | likely benign | Familial hypercholesterolemia | 2019-05-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001178324 | SCV002438195 | likely benign | Familial hypercholesterolemia | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003373007 | SCV004098399 | likely benign | Cardiovascular phenotype | 2023-09-06 | 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. |