ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.433C>T (p.Pro145Ser) (rs6752026)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000313793 SCV000427180 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354570 SCV000427181 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000464134 SCV000554835 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-07-24 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000354570 SCV000588414 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Color RCV000354570 SCV000687243 benign Familial hypercholesterolemia 2017-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000604267 SCV000714309 benign not specified 2017-04-05 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 RCV000354570 SCV000782854 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759460 SCV000888787 benign not provided 2018-05-08 criteria provided, single submitter clinical testing
Color RCV000771080 SCV000902615 benign Familial hypercholesterolemias 2017-06-22 criteria provided, single submitter clinical testing

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