ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12940A>G (p.Ile4314Val) (rs72654423)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227581 SCV000284761 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2018-01-03 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239033 SCV000296913 benign Familial hypercholesterolemia 2015-10-18 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000239033 SCV000588465 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000239033 SCV000607388 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Color RCV000239033 SCV000687202 likely benign Familial hypercholesterolemia 2017-06-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597586 SCV000705583 benign not specified 2017-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000597586 SCV000730071 likely benign not specified 2017-12-06 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.
Robarts Research Institute,Western University RCV000239033 SCV000782810 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758756 SCV000887571 benign not provided 2018-05-19 criteria provided, single submitter clinical testing
Color RCV000771078 SCV000902612 benign Familial hypercholesterolemias 2018-06-29 criteria provided, single submitter clinical testing

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