Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001191573 | SCV001359438 | likely benign | Familial hypercholesterolemia | 2018-12-31 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001191573 | SCV002373155 | likely benign | Familial hypercholesterolemia | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002225640 | SCV002504273 | likely benign | not provided | 2019-01-18 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ambry Genetics | RCV002323877 | SCV002629299 | likely benign | Cardiovascular phenotype | 2020-06-30 | 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. |
Fulgent Genetics, |
RCV000508857 | SCV002807202 | likely benign | Hypercholesterolemia, familial, 1 | 2021-09-14 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000508857 | SCV004820163 | likely benign | Hypercholesterolemia, familial, 1 | 2024-05-09 | criteria provided, single submitter | clinical testing | |
GENin |
RCV001191573 | SCV005619962 | 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). |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000508857 | SCV000606107 | benign | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research |