Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001448994 | SCV001652098 | likely benign | Familial hypercholesterolemia | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002414077 | SCV002722790 | likely benign | Cardiovascular phenotype | 2022-08-30 | 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, |
RCV001448994 | SCV004359052 | likely benign | Familial hypercholesterolemia | 2022-03-21 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004007047 | SCV004818471 | likely benign | Hypercholesterolemia, familial, 1 | 2023-02-15 | criteria provided, single submitter | clinical testing | |
GENin |
RCV001448994 | SCV005441734 | likely benign | Familial hypercholesterolemia | 2024-05-17 | 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 conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7). |