ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2292G>A (p.Arg764=)

gnomAD frequency: 0.00006  dbSNP: rs56267906
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
Invitae RCV000458274 SCV000558895 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002475906 SCV002774490 benign not specified 2021-08-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481493 SCV002797821 likely benign Fanconi anemia complementation group A 2021-08-10 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.