Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000211665 | SCV000294668 | likely benign | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Gene |
RCV002517449 | SCV003195013 | uncertain significance | not provided | 2022-07-22 | criteria provided, single submitter | clinical testing | Identified in a cohort of individuals with familial hypercholesterolemia, although zygosity and patient specific clinical information were not provided (Hooper et al., 2012); In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30583242, 34906454, 22883975) |
Cardiovascular Genetics Laboratory, |
RCV000211665 | SCV000268560 | uncertain significance | Hypercholesterolemia, familial, 1 | 2008-07-07 | no assertion criteria provided | clinical testing |