ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2188G>A (p.Val730Ile) (rs12691202)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116385 SCV000150309 uncertain significance not specified 2014-08-22 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202719 SCV000257677 benign Familial hypercholesterolemia 1 2015-06-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116385 SCV000303935 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000202719 SCV000322836 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000202719 SCV000427142 likely benign Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000470775 SCV000554836 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2017-08-18 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000202719 SCV000588421 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Phosphorus, Inc. RCV000578002 SCV000679804 likely benign Hypobetalipoproteinemia, familial, 1 2017-08-01 criteria provided, single submitter clinical testing
Color RCV000202719 SCV000687215 benign Familial hypercholesterolemia 1 2017-06-27 criteria provided, single submitter clinical testing
GeneDx RCV000116385 SCV000729919 benign not specified 2017-03-09 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759455 SCV000888782 benign not provided 2018-07-11 criteria provided, single submitter clinical testing
Color RCV000771065 SCV000902577 benign Familial hypercholesterolemia 2017-06-22 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000759455 SCV001152171 likely pathogenic not provided 2019-03-01 criteria provided, single submitter clinical testing

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