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

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001837771	SCV000284761	benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-02-01	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000239033	SCV000296913	benign	Hypercholesterolemia, familial, 1	2015-10-18	criteria provided, single submitter	clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	RCV000239033	SCV000588465	uncertain significance	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Fundacion Hipercolesterolemia Familiar	RCV000239033	SCV000607388	uncertain significance	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Color Diagnostics, LLC DBA Color Health	RCV000239033	SCV000687202	likely benign	Hypercholesterolemia, familial, 1	2017-06-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000597586	SCV000705583	benign	not specified	2017-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000758756	SCV000730071	likely benign	not provided	2020-10-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26415676, 27153395)
Robarts Research Institute, Western University	RCV000239033	SCV000782810	likely benign	Hypercholesterolemia, familial, 1	2018-01-02	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000758756	SCV000887571	benign	not provided	2022-05-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000758756	SCV001152104	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	APOB: BP4, BS2
Illumina Laboratory Services, Illumina	RCV001136763	SCV001296626	benign	Hypercholesterolemia, autosomal dominant, type B	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 Laboratory Services, Illumina	RCV001136764	SCV001296627	uncertain significance	Familial hypobetalipoproteinemia 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000758756	SCV002505980	likely benign	not provided	2023-10-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002378975	SCV002690914	benign	Cardiovascular phenotype	2016-06-22	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GENinCode PLC	RCV000771078	SCV005074072	benign	Familial hypercholesterolemia	2022-09-26	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000597586	SCV001739758	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000597586	SCV001918784	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000597586	SCV001973997	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000771078	SCV003836792	benign	Familial hypercholesterolemia	2023-02-09	no assertion criteria provided	clinical testing