ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr) (rs1801702)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256347 SCV000322862 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Color RCV000256347 SCV000687201 benign Familial hypercholesterolemia 2017-06-27 criteria provided, single submitter clinical testing
Color RCV000771062 SCV000902573 benign Familial hypercholesterolemias 2017-08-04 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.
Illumina Clinical Services Laboratory,Illumina RCV000301482 SCV000426908 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000256347 SCV000426909 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000475514 SCV000554828 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-08-22 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000256347 SCV000588463 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
PreventionGenetics RCV000248329 SCV000303929 benign not specified criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000256347 SCV000484834 benign Familial hypercholesterolemia 2019-08-22 criteria provided, single submitter 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.