ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3591G>A (p.Leu1197=)

gnomAD frequency: 0.00282  dbSNP: rs55773634
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245852 SCV000302494 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000456749 SCV000558872 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000245852 SCV002047070 benign not specified 2021-05-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000245852 SCV002071407 benign not specified 2021-04-22 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316337 SCV004017559 benign Fanconi anemia complementation group A 2023-07-07 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.