Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV001256754 | SCV001433163 | benign | not specified | 2019-08-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002067314 | SCV002404570 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-09-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004027280 | SCV005035052 | likely benign | Cardiovascular phenotype | 2023-10-12 | 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. |
GENin |
RCV004820106 | SCV005441610 | likely benign | Familial hypercholesterolemia | 2023-07-22 | criteria provided, single submitter | clinical testing | This is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7). |