ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 19
Download table as spreadsheet
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.