ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.905-16A>C (rs12720810)

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Total submissions: 4
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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 RCV000256236 SCV000322828 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Color RCV000256236 SCV000687274 likely benign Familial hypercholesterolemia 2017-07-07 criteria provided, single submitter clinical testing
GeneDx RCV000615708 SCV000718521 likely benign not specified 2017-12-07 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.
Color RCV000771231 SCV000903330 likely benign Familial hypercholesterolemias 2017-06-01 criteria provided, single submitter clinical testing

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