ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2706C>T (p.Asn902=) (rs1801700)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247525 SCV000303937 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256257 SCV000322837 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000299673 SCV000427134 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000256257 SCV000427135 likely benign Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000247525 SCV000519197 benign not specified 2016-11-02 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.
Invitae RCV000466328 SCV000554841 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2017-08-21 criteria provided, single submitter clinical testing
Color RCV000256257 SCV000687220 benign Familial hypercholesterolemia 1 2017-06-27 criteria provided, single submitter clinical testing
Color RCV000776007 SCV000910541 benign Familial hypercholesterolemia 2017-08-04 criteria provided, single submitter clinical testing

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