ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3634C>A (p.Leu1212Met) (rs61736761)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202738 SCV000257680 likely benign Familial hypercholesterolemia 2015-02-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364202 SCV000427098 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000202738 SCV000427099 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000202738 SCV000484830 benign Familial hypercholesterolemia 2019-08-22 criteria provided, single submitter clinical testing
Invitae RCV000759459 SCV000554829 benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000202738 SCV000588431 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Color RCV000202738 SCV000687236 benign Familial hypercholesterolemia 2017-06-27 criteria provided, single submitter clinical testing
GeneDx RCV000604288 SCV000714650 benign not specified 2017-06-27 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759459 SCV000888786 benign not provided 2018-05-08 criteria provided, single submitter clinical testing
Color RCV000776029 SCV000910602 benign Familial hypercholesterolemias 2017-08-04 criteria provided, single submitter clinical testing

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