ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.538-9C>T (rs1800478)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000312564 SCV000427177 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367269 SCV000427178 likely benign Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000461028 SCV000554809 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2017-08-17 criteria provided, single submitter clinical testing
Color RCV000367269 SCV000687246 benign Familial hypercholesterolemia 1 2017-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000614483 SCV000729890 benign not specified 2018-01-25 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 RCV000367269 SCV000782860 benign Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Color RCV000771069 SCV000902591 benign Familial hypercholesterolemia 2017-06-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985339 SCV001133412 benign not provided 2018-11-26 criteria provided, single submitter clinical testing

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