ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2946C>T (p.Ala982=)

gnomAD frequency: 0.00005  dbSNP: rs762453164
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001427347 SCV001630022 likely benign Fanconi anemia 2024-10-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495585 SCV002796872 likely benign Fanconi anemia complementation group I 2021-11-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706136 SCV005213921 likely benign not provided criteria provided, single submitter not provided

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.