ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1706-10G>A (rs17248882)

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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000211645 SCV000323103 uncertain significance Familial hypercholesterolemia 2016-08-31 criteria provided, single submitter research MAF =<0.3%, LDL-C >=160 mg/dL
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211645 SCV000268631 benign Familial hypercholesterolemia 2015-04-02 no assertion criteria provided clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000211645 SCV000322971 likely benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 1/125 non-FH individuals
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000211645 SCV000503394 benign Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 15
Color RCV000211645 SCV000689765 likely benign Familial hypercholesterolemia 2017-06-22 criteria provided, single submitter clinical testing
Color RCV000771093 SCV000902688 benign Familial hypercholesterolemias 2018-06-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000211645 SCV000733826 likely benign Familial hypercholesterolemia no assertion criteria provided clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000211645 SCV000296925 uncertain significance Familial hypercholesterolemia 2015-09-02 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000211645 SCV000607628 likely benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
GeneDx RCV000455738 SCV000730511 benign not specified 2017-12-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Iberoamerican FH Network RCV000211645 SCV000748152 likely benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Invitae RCV000211645 SCV000556772 benign Familial hypercholesterolemia 2017-12-27 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000211645 SCV000295599 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000211645 SCV000606493 benign Familial hypercholesterolemia no assertion criteria provided research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455738 SCV000539506 likely benign not specified 2017-02-03 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This is an intronic variant in LDLR. It is classified as DM? in HGMD. It has been reported in 2 probands with hypercholesterolemia but in both co-occurred with another variant. It is classified in ClinVar with 1 star as Benign by Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital, Likely benign by British Heart Foundation and Instituto Nacional de Saude Doutor Ricardo Jorge (in 1/125 non-FH individuals), and as VUS by CHOP. It has a max MAF in ExAC of 0.38% (44 Latino alleles) and in gnomAD of 0.4% (41 Ashkenazi and 122 Latino alleles).
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000211645 SCV000588603 likely benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759075 SCV000888162 benign not provided 2018-05-23 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000211645 SCV000782923 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000211645 SCV000583867 likely benign Familial hypercholesterolemia 2017-03-30 criteria provided, single submitter clinical testing

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