ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11354C>T (p.Thr3785Ile) (rs143710616)

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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 RCV000359371 SCV000426969 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404437 SCV000426970 uncertain significance Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Iberoamerican FH Network RCV000404437 SCV000748126 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Invitae RCV000655114 SCV000777039 likely benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-09-25 criteria provided, single submitter clinical testing
Color RCV000771141 SCV000902949 likely benign Familial hypercholesterolemias 2018-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000842212 SCV000984212 likely benign not provided 2018-04-19 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.

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