ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.941-4G>A (rs116405216)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000210248 SCV000266319 uncertain significance Familial hypercholesterolemia 2016-08-31 criteria provided, single submitter research MAF =<0.3%, likely pathogenic based on the integrative in-silico score
Color RCV000771133 SCV000902916 benign Familial hypercholesterolemias 2017-07-06 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000210248 SCV000296929 likely benign Familial hypercholesterolemia 2015-11-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000210248 SCV000743852 benign Familial hypercholesterolemia 2017-07-28 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000736080 SCV000864320 likely benign not specified 2017-05-17 criteria provided, single submitter clinical testing BS1, BP4; This alteration has an allele frequency that is greater than expected for the associated disease, and is predicted to be tolerated by multiple functional prediction tools.
Invitae RCV000210248 SCV000556777 benign Familial hypercholesterolemia 2018-01-12 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000210248 SCV000295089 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000210248 SCV000606281 benign Familial hypercholesterolemia no assertion criteria provided research
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000210248 SCV000588533 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Robarts Research Institute,Western University RCV000210248 SCV000484780 likely benign Familial hypercholesterolemia 2019-08-22 criteria provided, single submitter clinical testing
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000210248 SCV000583767 likely pathogenic Familial hypercholesterolemia 2017-03-30 criteria provided, single submitter clinical testing

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