Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588383 | SCV000697193 | likely benign | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001393933 | SCV001595610 | likely benign | Familial hypercholesterolemia | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002384284 | SCV002694356 | likely benign | Cardiovascular phenotype | 2016-08-31 | 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. |
Color Diagnostics, |
RCV001393933 | SCV004358522 | likely benign | Familial hypercholesterolemia | 2017-07-17 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004002419 | SCV004820290 | likely benign | Hypercholesterolemia, familial, 1 | 2024-03-28 | criteria provided, single submitter | clinical testing |