ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4147T>G (p.Tyr1383Asp)

gnomAD frequency: 0.00118  dbSNP: rs144104545
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 RCV000861276 SCV001001541 likely benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256561 SCV002527359 likely benign Hereditary cancer-predisposing syndrome 2021-09-02 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478526 SCV004218794 likely benign not provided 2023-06-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948052 SCV004759805 likely benign FANCM-related condition 2020-04-20 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).
Genetic Services Laboratory, University of Chicago RCV003151159 SCV003839524 likely benign not specified 2022-08-24 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.