Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000775057 | SCV000909157 | likely benign | Familial hypercholesterolemia | 2017-09-01 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284636 | SCV001470524 | likely benign | not provided | 2020-02-25 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000775057 | SCV001606434 | likely benign | Familial hypercholesterolemia | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002458384 | SCV002738934 | likely benign | Cardiovascular phenotype | 2020-07-19 | 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. |
All of Us Research Program, |
RCV004001426 | SCV004820268 | likely benign | Hypercholesterolemia, familial, 1 | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004702406 | SCV005202476 | likely benign | not specified | 2024-07-14 | criteria provided, single submitter | clinical testing |