ClinVar Miner

Submissions for variant NM_000384.2(APOB):c.13451C>T (p.Thr4484Met) (rs12713450)

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 RCV000256275 SCV000322866 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Color RCV000256275 SCV000687208 benign Familial hypercholesterolemia 2017-06-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000249837 SCV000861839 benign not specified 2018-06-13 criteria provided, single submitter clinical testing
GeneDx RCV000249837 SCV000521120 benign not specified 2017-01-09 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 RCV000256275 SCV000426891 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373894 SCV000426892 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000477618 SCV000554814 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-08-21 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000256275 SCV000588468 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
PreventionGenetics RCV000249837 SCV000303932 benign not specified criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000256275 SCV000782813 likely benign Familial hypercholesterolemia 2018-01-02 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.