ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13302C>T (p.Ser4434=) (rs144040999)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000296467 SCV000426896 uncertain significance Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325753 SCV000426897 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000296467 SCV000782812 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing
Color RCV000775091 SCV000909195 likely benign Familial hypercholesterolemias 2018-07-02 criteria provided, single submitter clinical testing

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