ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9004C>T (p.Leu3002=) (rs12713600)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000392566 SCV000427007 likely benign Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313222 SCV000427008 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000759467 SCV000659306 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000613997 SCV000714915 benign not specified 2017-03-21 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759467 SCV000888795 benign not provided 2018-05-17 criteria provided, single submitter clinical testing
Color RCV000776052 SCV000910668 benign Familial hypercholesterolemia 2017-06-27 criteria provided, single submitter clinical testing

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