ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2517T>G (p.Ile839Met)

gnomAD frequency: 0.00076  dbSNP: rs61744648
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227957 SCV000290511 likely benign Fanconi anemia 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001536588 SCV001753367 uncertain significance not provided 2023-06-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with breast cancer (Dorling et al., 2021); This variant is associated with the following publications: (PMID: 33471991)
Sema4, Sema4 RCV002256168 SCV002527335 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-07 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001536588 SCV004218744 likely benign not provided 2023-07-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541448 SCV004783731 likely benign FANCM-related disorder 2022-05-04 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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