ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5768A>G (p.His1923Arg) (rs533617)

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
Genetic Services Laboratory, University of Chicago RCV000116387 SCV000150311 uncertain significance not specified 2014-09-10 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202968 SCV000257684 benign Familial hypercholesterolemia 2015-02-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116387 SCV000303944 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000202968 SCV000322846 likely benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 4/101 non-FH individuals
Illumina Clinical Services Laboratory,Illumina RCV000202968 SCV000427062 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000458118 SCV000554797 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-08-17 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000202968 SCV000588439 likely benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Color RCV000202968 SCV000687250 benign Familial hypercholesterolemia 2017-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000116387 SCV000729894 benign not specified 2017-06-06 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.
Color RCV000771060 SCV000902571 benign Familial hypercholesterolemias 2017-07-25 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.