ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1470+15T>C (rs185550846)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256292 SCV000322832 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000302664 SCV000427154 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000256292 SCV000427155 uncertain significance Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000603598 SCV000714423 likely benign not specified 2017-05-15 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.
Iberoamerican FH Network RCV000256292 SCV000748121 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Robarts Research Institute,Western University RCV000256292 SCV000782818 uncertain significance Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing
Color RCV000775219 SCV000909463 likely benign Familial hypercholesterolemias 2017-07-07 criteria provided, single submitter clinical testing

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