Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Integrative and Experimental Genomics, |
RCV000172966 | SCV000212144 | likely benign | Hypercholesterolemia, familial, 1 | criteria provided, single submitter | research | ||
Invitae | RCV001837467 | SCV001199102 | benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001596982 | SCV001830572 | uncertain significance | not provided | 2021-01-22 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26036859) |