ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11833A>G (p.Thr3945Ala) (rs1801698)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000405121 SCV000426947 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302134 SCV000426948 uncertain significance Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000473188 SCV000554802 benign not provided 2019-02-22 criteria provided, single submitter clinical testing
GeneDx RCV000612455 SCV000720733 likely benign not specified 2017-06-26 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.
Robarts Research Institute,Western University RCV000302134 SCV000782799 uncertain significance Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Color RCV000771114 SCV000902819 likely benign Familial hypercholesterolemia 2017-07-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000473188 SCV001133388 likely benign not provided 2018-09-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000473188 SCV001156205 uncertain significance not provided 2019-01-01 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.