ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12310C>A (p.Leu4104Met) (rs199668351)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000343227 SCV000426920 uncertain significance Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001087962 SCV000554832 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000343227 SCV000782804 uncertain significance Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Color RCV000771140 SCV000902948 likely benign Familial hypercholesterolemia 2017-08-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000461857 SCV001133390 benign not provided 2019-05-24 criteria provided, single submitter clinical testing

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