ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224150 SCV000281061 likely benign not provided 2017-08-22 criteria provided, single submitter clinical testing
Invitae RCV001083392 SCV000284752 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000443322 SCV000521117 benign not specified 2016-11-25 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.
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000157118 SCV000588450 likely benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000157118 SCV000607382 likely benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color RCV000157118 SCV000687188 likely benign Familial hypercholesterolemia 1 2017-06-27 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000157118 SCV000782786 benign Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Color RCV000776020 SCV000910583 benign Familial hypercholesterolemia 2018-06-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000224150 SCV001133382 benign not provided 2019-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001137197 SCV001297112 likely benign Familial hypercholesterolemia 2 2018-01-29 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Blueprint Genetics RCV000157118 SCV000206841 likely benign Familial hypercholesterolemia 1 2014-12-02 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.