ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.349C>A (p.Pro117Thr)

gnomAD frequency: 0.00008  dbSNP: rs372625322
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229804 SCV000290669 likely benign Fanconi anemia 2024-01-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820763 SCV002071322 uncertain significance not specified 2019-10-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316303 SCV004017681 likely benign Fanconi anemia complementation group F 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955369 SCV004772545 likely benign FANCF-related disorder 2023-12-26 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).
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153540 SCV003843659 likely pathogenic Ovarian cancer 2022-01-01 flagged submission clinical testing

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