ClinVar Miner

Submissions for variant NC_000011.9:g.(?_22646226)_(22647362_?)dup

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 RCV001341076 SCV001534916 uncertain significance Fanconi anemia 2016-05-04 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the FANCF gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. Duplications of the entire sequence of the FANCF gene have not been reported in the literature. In summary, this is a novel duplication of the FANCF gene of unknown clinical relevance. It has been classified as a Variant of Uncertain Significance

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.