ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3924+1G>A

dbSNP: rs864622739
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000206316 SCV000262246 likely pathogenic Fanconi anemia 2015-11-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Likely Pathogenic. This variant is not present in population databases and has not been reported in the literature. This sequence change affects a donor splice site in intron 37. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product.

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.