ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12382G>A (p.Val4128Met) (rs1801703)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436564 SCV000525848 benign not specified 2016-11-21 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.
Invitae RCV000477024 SCV000554834 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2018-01-12 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000497067 SCV000588460 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000497067 SCV000607387 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Color RCV000497067 SCV000687198 likely benign Familial hypercholesterolemia 2017-06-26 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000497067 SCV000782807 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758754 SCV000887568 benign not provided 2018-07-11 criteria provided, single submitter clinical testing
Color RCV000771084 SCV000902627 benign Familial hypercholesterolemias 2018-06-29 criteria provided, single submitter clinical testing

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