Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000343227 | SCV000426920 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001837834 | SCV000554832 | benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Robarts Research Institute, |
RCV000343227 | SCV000782804 | uncertain significance | Hypercholesterolemia, familial, 1 | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000461857 | SCV001133390 | benign | not provided | 2019-05-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365398 | SCV002664703 | likely benign | Cardiovascular phenotype | 2020-10-29 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |