ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1223T>C (p.Ile408Thr) (rs12714225)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776082 SCV000910829 benign Familial hypercholesterolemias 2017-07-07 criteria provided, single submitter clinical testing
GeneDx RCV000454476 SCV000730572 likely benign not specified 2017-01-30 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 RCV000327915 SCV000427160 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368629 SCV000427161 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000553231 SCV000659260 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-12-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000454476 SCV000538313 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 2.7% (279/10394) African chromosomes
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000368629 SCV000588416 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758753 SCV000887567 benign not provided 2018-05-17 criteria provided, single submitter clinical testing

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