ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2604+15G>C (rs72653066)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000298713 SCV000687219 benign Familial hypercholesterolemia 2017-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000242945 SCV000519796 benign not specified 2017-12-29 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 RCV000393957 SCV000427136 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298713 SCV000427137 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000242945 SCV000303936 benign not specified criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000298713 SCV000782830 benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

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