ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2222C>A (p.Thr741Asn) (rs12714192)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000202991 SCV000687216 benign Familial hypercholesterolemia 2017-06-26 criteria provided, single submitter clinical testing
Color RCV000771090 SCV000902651 benign Familial hypercholesterolemias 2017-08-04 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202991 SCV000257678 likely benign Familial hypercholesterolemia 2015-02-16 criteria provided, single submitter clinical testing
GeneDx RCV000610226 SCV000714914 benign not specified 2017-05-04 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 RCV000321016 SCV000427140 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000202991 SCV000427141 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000537425 SCV000659273 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2018-01-26 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000202991 SCV000588422 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759456 SCV000888783 benign not provided 2018-05-08 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000202991 SCV000782828 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

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