ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2853G>A (p.Glu951=) (rs151193347)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000327272 SCV000427126 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384191 SCV000427127 uncertain significance Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001080829 SCV000554807 likely benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000384191 SCV000607379 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color RCV000771230 SCV000903329 likely benign Familial hypercholesterolemia 2017-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000839705 SCV000981609 likely benign not provided 2018-03-16 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000839705 SCV001133401 likely benign not provided 2019-01-10 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000839705 SCV001152165 likely benign not provided 2019-04-01 criteria provided, single submitter clinical testing

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