Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001184966 | SCV001351069 | likely benign | Familial hypercholesterolemia | 2019-10-24 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001184966 | SCV001615071 | likely benign | Familial hypercholesterolemia | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350130 | SCV002652260 | likely benign | Cardiovascular phenotype | 2022-08-22 | 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, |
RCV000508791 | SCV004820177 | likely benign | Hypercholesterolemia, familial, 1 | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000508791 | SCV000606155 | benign | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research |