ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys) (rs1042031)

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Total submissions: 9
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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 RCV000256314 SCV000322861 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Color RCV000256314 SCV000687199 benign Familial hypercholesterolemia 2017-06-26 criteria provided, single submitter clinical testing
Color RCV000771040 SCV000902541 benign Familial hypercholesterolemias 2017-07-24 criteria provided, single submitter clinical testing
GeneDx RCV000116381 SCV000519199 benign not specified 2016-10-18 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 RCV000116381 SCV000150305 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000268700 SCV000426913 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000256314 SCV000426914 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000256314 SCV000588461 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
PreventionGenetics RCV000116381 SCV000303927 benign not specified criteria provided, single submitter clinical testing

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