ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2317-8C>T

gnomAD frequency: 0.00005  dbSNP: rs753766357
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560100 SCV000626164 likely benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821476 SCV002066605 likely benign not specified 2019-08-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497050 SCV002808656 likely benign Fanconi anemia complementation group A 2022-05-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478118 SCV004221960 likely benign not provided 2023-03-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935399 SCV004764414 likely benign FANCA-related disorder 2019-11-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.