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

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001086295	SCV000284761	benign	Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1	2019-12-31	criteria provided, single submitter	clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia	RCV000239033	SCV000296913	benign	Familial hypercholesterolemia 1	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 1	2016-03-01	criteria provided, single submitter	research
Fundacion Hipercolesterolemia Familiar	RCV000239033	SCV000607388	uncertain significance	Familial hypercholesterolemia 1	2016-03-01	criteria provided, single submitter	research
Color	RCV000239033	SCV000687202	likely benign	Familial hypercholesterolemia 1	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 1	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 hypercholesterolemia	2018-06-29	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000758756	SCV001152104	likely benign	not provided	2020-02-01	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001136763	SCV001296626	benign	Familial hypercholesterolemia 2	2017-07-11	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina	RCV001136764	SCV001296627	uncertain significance	Hypobetalipoproteinemia, familial, 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.