ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11477C>T (p.Thr3826Met) (rs61744153)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000845395 SCV000284757 benign not provided 2019-02-22 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239211 SCV000296911 benign Familial hypercholesterolemia 1 2015-07-29 criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000239211 SCV000322859 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 0/190 non-FH alleles
Illumina Clinical Services Laboratory,Illumina RCV000239211 SCV000426961 uncertain significance Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293206 SCV000426962 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000427612 SCV000521121 likely benign not specified 2018-03-08 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000427612 SCV000538307 benign not specified 2016-03-28 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: ExAC: 0.7% (84/11556) Latino chromosomes
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000239211 SCV000588457 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color RCV000239211 SCV000687192 likely benign Familial hypercholesterolemia 1 2017-07-10 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000239211 SCV000782796 uncertain significance Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Color RCV000771097 SCV000902729 likely benign Familial hypercholesterolemia 2018-08-02 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845395 SCV000987458 likely benign not provided criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000845395 SCV001156206 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing

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