ClinVar Miner

Submissions for variant NC_000016.10:g.(?_89752128)_(89808377_?)del

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
Invitae RCV001032776 SCV001196083 pathogenic Fanconi anemia 2019-04-26 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 6-31 of the FANCA gene. It preserves the integrity of the reading frame. A similar deletion of exons 6-31 in FANCA has been observed to segregate with Fanconi anemia in a family (PMID: 15059067). For these reasons, this variant has been classified as Pathogenic.

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.