ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248329 SCV000303929 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256347 SCV000322862 benign Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV000301482 SCV000426908 benign Familial hypobetalipoproteinemia 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV001094613 SCV000426909 benign Hypercholesterolemia, autosomal dominant, type B 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Robarts Research Institute, Western University RCV000256347 SCV000484834 benign Hypercholesterolemia, familial, 1 2019-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000248329 SCV000519323 benign not specified 2016-12-01 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.
Invitae RCV001837797 SCV000554828 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-02-01 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000256347 SCV000588463 benign Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Color Diagnostics, LLC DBA Color Health RCV000256347 SCV000687201 benign Hypercholesterolemia, familial, 1 2017-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379073 SCV002694226 benign Cardiovascular phenotype 2015-12-16 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736677 SCV004562902 benign not provided 2023-10-16 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000248329 SCV001917144 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000248329 SCV001963598 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV000771062 SCV003836791 benign Familial hypercholesterolemia 2023-02-09 no assertion criteria provided clinical testing

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