Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001426879 | SCV001629540 | likely benign | Familial hypercholesterolemia | 2021-10-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372441 | SCV002667125 | likely benign | Cardiovascular phenotype | 2019-11-08 | 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. |
Color Diagnostics, |
RCV001426879 | SCV004358491 | likely benign | Familial hypercholesterolemia | 2022-05-23 | criteria provided, single submitter | clinical testing |