ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3006+3A>G

gnomAD frequency: 0.00001  dbSNP: rs1294973649
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001195000 SCV004197180 likely pathogenic Fanconi anemia complementation group I 2023-07-12 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001195000 SCV001364878 pathogenic Fanconi anemia complementation group I 2011-02-07 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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.