ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln) (rs1801701)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000116380 SCV000268795 benign not specified 2015-12-31 criteria provided, single submitter clinical testing p.Arg3638Gln in exon 26 of APOB: This variant is not expected to have clinical s ignificance because it has been identified in 6.9% (8306/120598) of chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1801701).
PreventionGenetics,PreventionGenetics RCV000116380 SCV000303923 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256270 SCV000322857 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000331169 SCV000426977 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000256270 SCV000426978 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000116380 SCV000518340 benign not specified 2016-11-09 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.
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000256270 SCV000588455 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Color RCV000256270 SCV000687191 benign Familial hypercholesterolemia 2017-06-27 criteria provided, single submitter clinical testing
Color RCV000771051 SCV000902556 benign Familial hypercholesterolemias 2017-07-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116380 SCV000150304 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.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000116380 SCV000605953 benign not specified no assertion criteria provided research

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