ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10701G>A (p.Thr3567=) (rs12713558)

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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 RCV000256351 SCV000322856 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Color RCV000256351 SCV000687189 benign Familial hypercholesterolemia 2017-07-10 criteria provided, single submitter clinical testing
Color RCV000776037 SCV000910636 benign Familial hypercholesterolemias 2017-08-04 criteria provided, single submitter clinical testing
GeneDx RCV000599686 SCV000729427 benign not specified 2017-07-10 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.
Illumina Clinical Services Laboratory,Illumina RCV000342952 SCV000426983 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000256351 SCV000426984 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000465840 SCV000554801 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2018-01-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758748 SCV000887562 benign not provided 2018-05-08 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000256351 SCV000782791 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

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