ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10737C>T (p.Thr3579=) (rs12713554)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000278537 SCV000687190 benign Familial hypercholesterolemia 2017-06-27 criteria provided, single submitter clinical testing
GeneDx RCV000244383 SCV000714066 benign not specified 2017-06-06 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 RCV000373021 SCV000426981 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278537 SCV000426982 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000459916 SCV000554823 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2018-01-22 criteria provided, single submitter clinical testing
PreventionGenetics RCV000244383 SCV000303922 benign not specified criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758749 SCV000887563 benign not provided 2018-05-05 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000278537 SCV000782792 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

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