Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000238413 | SCV002568118 | uncertain significance | Hypercholesterolemia, familial, 1 | 2022-01-18 | reviewed by expert panel | curation | NM_000527.5(LDLR):c.1577C>G (p.Pro526Arg) variant is classified as variant of Uncertain significance for Familial Hypercholesterolemia by applying evidence codes (PM2 and PP3) as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (https://doi.org/10.1016/j.gim.2021.09.012). The supporting evidence is as follows: PM2 - This variant is absent from gnomAD (gnomAD v2.1.1). PP3 - REVEL = 0.966 |
LDLR- |
RCV000238413 | SCV000295506 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000238413 | SCV000606457 | pathogenic | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research |