ClinVar Miner

Submissions for variant NC_000016.10:g.(?_89767131)_(89784974_?)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
Labcorp Genetics (formerly Invitae), Labcorp RCV001031539 SCV001194845 pathogenic Fanconi anemia 2021-03-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with FANCA-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 15-27 of the FANCA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. The region of the FANCA gene that includes exon(s) 15-17 has been determined to be clinically significant (PMID: 10521298, 23613520, 17924555, 9711872). Therefore, deletions that encompass that region are likely to disrupt protein function and cause disease.

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.