ClinVar Miner

Submissions for variant NM_000041.4(APOE):c.388T>C (p.Cys130Arg) (rs429358)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000292119 SCV000333415 other not provided 2017-11-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000826089 SCV000967586 risk factor Primary degenerative dementia of the Alzheimer type, presenile onset 2019-01-16 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
OMIM RCV000019448 SCV000039738 pathogenic Alzheimer disease 2 2018-01-10 no assertion criteria provided literature only

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.