ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) (rs34592408)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000299264 SCV000399852 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000858640 SCV000558880 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120921 SCV000594638 likely benign not specified 2015-10-06 criteria provided, single submitter clinical testing
ITMI RCV000120921 SCV000085089 not provided not specified 2013-09-19 no assertion provided reference population

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.