ClinVar Miner

Submissions for variant NM_000384.2(APOB):c.6639_6641delTGA (p.Asp2213del) (rs541497967)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics, RCV000157119 SCV000206842 uncertain significance Familial hypercholesterolemia 2014-10-07 no assertion criteria provided clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000157119 SCV000322847 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 1/96 normolipidaemic Portuguese controls
Color RCV000157119 SCV000687254 likely benign Familial hypercholesterolemia 2017-07-07 criteria provided, single submitter clinical testing
Color RCV000776056 SCV000910691 benign Familial hypercholesterolemias 2018-03-07 criteria provided, single submitter clinical testing
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.
Iberoamerican FH Network RCV000157119 SCV000748125 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000157119 SCV000427053 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Institute for Integrative and Experimental Genomics,University of Luebeck RCV000157119 SCV000212147 likely benign Familial hypercholesterolemia criteria provided, single submitter research
Invitae RCV000471850 SCV000554839 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2018-01-08 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
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000157119 SCV000588440 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
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
Robarts Research Institute,Western University RCV000157119 SCV000782873 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

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