Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237772 | SCV000295117 | likely benign | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | research | |
Color Diagnostics, |
RCV001186223 | SCV001352590 | likely benign | Familial hypercholesterolemia | 2017-07-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374403 | SCV002692565 | likely benign | Cardiovascular phenotype | 2022-10-07 | 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. |
Labcorp Genetics |
RCV001186223 | SCV004373263 | likely benign | Familial hypercholesterolemia | 2024-11-11 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000237772 | SCV004820241 | likely benign | Hypercholesterolemia, familial, 1 | 2023-10-23 | criteria provided, single submitter | clinical testing | |
GENin |
RCV001186223 | SCV005441712 | likely benign | Familial hypercholesterolemia | 2023-02-28 | 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). |