Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000775028 | SCV000752443 | likely benign | Familial hypercholesterolemia | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000775028 | SCV000909125 | likely benign | Familial hypercholesterolemia | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002438650 | SCV002748216 | likely benign | Cardiovascular phenotype | 2020-05-22 | 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, |
RCV004003808 | SCV004820140 | likely benign | Hypercholesterolemia, familial, 1 | 2023-12-18 | criteria provided, single submitter | clinical testing | |
GENin |
RCV000775028 | SCV005619960 | likely benign | Familial hypercholesterolemia | 2025-01-07 | criteria provided, single submitter | clinical testing | This is a synonymous (silent) variant that is not predicted to impact splicing and occurs at a nucleotide which is not highly conserved. This variant has been classified as Likely Benign (BP4, BP7). |