ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3681A>G (p.Leu1227=)

gnomAD frequency: 0.00047  dbSNP: rs61749475
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868203 SCV001009505 likely benign Fanconi anemia 2023-11-24 criteria provided, single submitter clinical testing
GeneDx RCV001566056 SCV001789522 uncertain significance not provided 2023-08-03 criteria provided, single submitter clinical testing 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 RCV001816983 SCV002069558 likely benign not specified 2021-08-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001566056 SCV004218781 likely benign not provided 2022-12-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948141 SCV004763532 likely benign FANCM-related condition 2019-04-09 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).

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