ClinVar Miner

Submissions for variant NM_000384.2(APOB):c.13441G>A (p.Ala4481Thr) (rs1801695)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000203110 SCV000322865 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Color RCV000203110 SCV000687207 benign Familial hypercholesterolemia 2017-06-27 criteria provided, single submitter clinical testing
Color RCV000771061 SCV000902572 benign Familial hypercholesterolemias 2017-08-04 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203110 SCV000257676 benign Familial hypercholesterolemia 2015-07-17 criteria provided, single submitter clinical testing
GeneDx RCV000116383 SCV000519680 benign not specified 2016-12-22 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.
Genetic Services Laboratory, University of Chicago RCV000116383 SCV000150307 uncertain significance not specified 2014-10-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000203110 SCV000426895 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000462538 SCV000554838 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-08-11 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000203110 SCV000588467 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
PreventionGenetics RCV000116383 SCV000303931 likely benign not specified criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759453 SCV000888780 benign not provided 2018-05-17 criteria provided, single submitter clinical testing

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