ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.40del (p.Leu14fs)

dbSNP: rs761039364
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231987 SCV001404527 pathogenic Fanconi anemia 2024-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu14Cysfs*27) in the FANCL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCL are known to be pathogenic (PMID: 19405097, 23613520). This variant is present in population databases (rs761039364, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FANCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 958767). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002480759 SCV002786090 likely pathogenic Fanconi anemia complementation group L 2022-05-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV002480759 SCV004197253 likely pathogenic Fanconi anemia complementation group L 2023-10-20 criteria provided, single submitter clinical testing

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.