ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.491A>C (p.His164Pro)

gnomAD frequency: 0.00176  dbSNP: rs144278051
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463663 SCV000558910 likely benign Fanconi anemia 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001555524 SCV001776962 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in a patient with rosette-forming glioneuronal tumor (Lin et al., 2016); This variant is associated with the following publications: (PMID: 27626068)
Sema4, Sema4 RCV002256303 SCV002529865 likely benign Hereditary cancer-predisposing syndrome 2020-11-25 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001555524 SCV002774156 likely benign not provided 2022-09-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541481 SCV004775991 likely benign FANCM-related disorder 2022-07-06 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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