Submissions for variant NM_000384.3(APOB):c.12940A>G (p.Ile4314Val) (rs72654423)

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Total submissions: 10

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000227581	SCV000284761	benign	Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1	2018-01-03	criteria provided, single submitter	clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia	RCV000239033	SCV000296913	benign	Familial hypercholesterolemia	2015-10-18	criteria provided, single submitter	clinical testing
Laboratory of Genetics and Molecular Cardiology,University of São Paulo	RCV000239033	SCV000588465	uncertain significance	Familial hypercholesterolemia	2016-03-01	criteria provided, single submitter	research
Fundacion Hipercolesterolemia Familiar	RCV000239033	SCV000607388	uncertain significance	Familial hypercholesterolemia	2016-03-01	criteria provided, single submitter	research
Color	RCV000239033	SCV000687202	likely benign	Familial hypercholesterolemia	2017-06-27	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000597586	SCV000705583	benign	not specified	2017-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000597586	SCV000730071	likely benign	not specified	2017-12-06	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.
Robarts Research Institute,Western University	RCV000239033	SCV000782810	likely benign	Familial hypercholesterolemia	2018-01-02	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000758756	SCV000887571	benign	not provided	2018-05-19	criteria provided, single submitter	clinical testing
Color	RCV000771078	SCV000902612	benign	Familial hypercholesterolemias	2018-06-29	criteria provided, single submitter	clinical testing

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