ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7545C>T (p.Thr2515=) (rs693)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116389 SCV000303949 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388049 SCV000427038 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274903 SCV000427039 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000116389 SCV000519285 benign not specified 2016-10-07 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.
Color RCV000388049 SCV000687261 benign Familial hypercholesterolemia 2017-06-27 criteria provided, single submitter clinical testing
Color RCV000771027 SCV000902523 benign Familial hypercholesterolemias 2017-07-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116389 SCV000150313 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.
Pharmacogenomics Lab,Chungbuk National University RCV000845577 SCV000889942 drug response Warfarin response 2010-08-31 no assertion criteria provided research

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