ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5717-4T>A

gnomAD frequency: 0.00001  dbSNP: rs781258517
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 RCV001864287 SCV002119975 likely benign Fanconi anemia 2023-03-24 criteria provided, single submitter clinical testing
GeneDx RCV002265036 SCV002547056 uncertain significance not provided 2023-03-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Genetic Services Laboratory, University of Chicago RCV003151355 SCV003839527 likely benign not specified 2022-07-18 no assertion criteria provided 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.