Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000872640 | SCV001014489 | benign | Familial hypercholesterolemia | 2025-01-14 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000872640 | SCV001352312 | likely benign | Familial hypercholesterolemia | 2017-10-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381988 | SCV002689860 | likely benign | Cardiovascular phenotype | 2020-02-11 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003230602 | SCV003929050 | likely benign | not specified | 2023-04-10 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004003082 | SCV004820294 | likely benign | Hypercholesterolemia, familial, 1 | 2024-02-05 | criteria provided, single submitter | clinical testing | |
GENin |
RCV000872640 | SCV005441719 | likely benign | Familial hypercholesterolemia | 2024-03-08 | 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). |