ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu) (rs676210)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116390 SCV000303953 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256326 SCV000322850 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000326889 SCV000427020 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000256326 SCV000427021 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000116390 SCV000519198 benign not specified 2016-10-27 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 RCV000256326 SCV000588445 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Color RCV000256326 SCV000687268 benign Familial hypercholesterolemia 2017-06-27 criteria provided, single submitter clinical testing
Color RCV000771029 SCV000902526 benign Familial hypercholesterolemias 2017-07-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116390 SCV000150314 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.

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