ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3087G>A (p.Glu1029=)

gnomAD frequency: 0.00001  dbSNP: rs35402142
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
Invitae RCV000863938 SCV001004674 likely benign Fanconi anemia 2023-12-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413680 SCV004143600 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing FANCA: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003413680 SCV004221995 likely benign not provided 2023-05-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280429 SCV001467609 likely benign Fanconi anemia complementation group A 2020-10-23 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.