ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6636_6638TGA[1] (p.Asp2213del) (rs541497967)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Integrative and Experimental Genomics,University of Luebeck RCV000157119 SCV000212147 likely benign Familial hypercholesterolemia 1 criteria provided, single submitter research
GeneDx RCV000181039 SCV000233314 likely benign not specified 2017-11-27 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.
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000157119 SCV000322847 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 1/96 normolipidaemic Portuguese controls
Illumina Clinical Services Laboratory,Illumina RCV000157119 SCV000427053 likely benign Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000181039 SCV000538311 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: 1.9% (122/6498) Finnish chromosomes
Invitae RCV001082542 SCV000554839 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000157119 SCV000588440 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color RCV000157119 SCV000687254 likely benign Familial hypercholesterolemia 1 2017-07-07 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000181039 SCV000740414 likely benign not specified 2017-07-06 criteria provided, single submitter clinical testing
Iberoamerican FH Network RCV000157119 SCV000748125 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Robarts Research Institute,Western University RCV000157119 SCV000782873 likely benign Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Color RCV000776056 SCV000910691 benign Familial hypercholesterolemia 2018-03-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000471850 SCV001133414 benign not provided 2018-12-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000471850 SCV001152145 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157119 SCV000206842 uncertain significance Familial hypercholesterolemia 1 2014-10-07 no assertion criteria provided clinical testing

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