ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1A>G (p.Met1Val) (rs772751654)

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
Genetic Services Laboratory, University of Chicago RCV000500370 SCV000594663 pathogenic Fanconi anemia, complementation group A 2016-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000500370 SCV000893423 pathogenic Fanconi anemia, complementation group A 2018-10-31 criteria provided, single submitter clinical testing
Counsyl RCV000500370 SCV000793422 likely pathogenic Fanconi anemia, complementation group A 2017-08-24 no assertion criteria provided 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.