ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6261C>A (p.Thr2087=) (rs61744855)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548481 SCV000659294 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000607910 SCV000722613 likely benign not specified 2017-09-07 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.
Robarts Research Institute,Western University RCV000660694 SCV000782872 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759462 SCV000888789 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Color RCV000771195 SCV000903181 benign Familial hypercholesterolemias 2018-03-19 criteria provided, single submitter clinical testing

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