Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000877728 | SCV001020506 | likely benign | Familial hypercholesterolemia | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000877728 | SCV001356338 | likely benign | Familial hypercholesterolemia | 2017-08-01 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004003126 | SCV004820264 | likely benign | Hypercholesterolemia, familial, 1 | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004526783 | SCV005039848 | likely benign | not specified | 2024-03-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004994098 | SCV005612293 | likely benign | Cardiovascular phenotype | 2024-07-01 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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, |
RCV000877728 | SCV002086404 | likely benign | Familial hypercholesterolemia | 2021-10-19 | no assertion criteria provided | clinical testing |