Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000869553 | SCV001010990 | likely benign | Familial hypercholesterolemia | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000869553 | SCV001735427 | likely benign | Familial hypercholesterolemia | 2021-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381965 | SCV002694316 | likely benign | Cardiovascular phenotype | 2022-10-21 | 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. |
Natera, |
RCV000869553 | SCV001460264 | likely benign | Familial hypercholesterolemia | 2020-09-16 | no assertion criteria provided | clinical testing |