ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7615G>A (p.Val2539Ile) (rs148170480)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000272728 SCV000687264 likely benign Familial hypercholesterolemia 2017-06-26 criteria provided, single submitter clinical testing
Color RCV000776041 SCV000910648 benign Familial hypercholesterolemias 2018-06-29 criteria provided, single submitter clinical testing
GeneDx RCV000608841 SCV000732806 likely benign not specified 2018-02-23 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.
Illumina Clinical Services Laboratory,Illumina RCV000358064 SCV000427032 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272728 SCV000427033 uncertain significance Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000542340 SCV000659299 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-12-13 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577963 SCV000679809 uncertain significance Hypercholesterolemia, autosomal dominant, type B 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578044 SCV000679810 uncertain significance Hypobetalipoproteinemia, familial, 1 2017-08-01 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000272728 SCV000484825 likely benign Familial hypercholesterolemia 2019-08-22 criteria provided, single submitter clinical testing

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