ClinVar Miner

Submissions for variant NM_000384.2(APOB):c.1353-12C>T (rs76202659)

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Total submissions: 6
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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 RCV000256251 SCV000322831 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Color RCV000771094 SCV000902697 benign Familial hypercholesterolemias 2017-07-07 criteria provided, single submitter clinical testing
GeneDx RCV000601123 SCV000729891 likely benign not specified 2018-03-12 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 RCV000256251 SCV000427158 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273237 SCV000427159 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000256251 SCV000782815 uncertain significance Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

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