ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3547T>C (p.Leu1183=)

gnomAD frequency: 0.00318  dbSNP: rs142667852
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470823 SCV000558911 benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001591121 SCV001826204 likely benign not provided 2021-09-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19737859)
Genetic Services Laboratory, University of Chicago RCV001821347 SCV002067587 likely benign not specified 2021-10-11 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257747 SCV002527354 likely benign Hereditary cancer-predisposing syndrome 2021-05-30 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001821347 SCV002774679 benign not specified 2021-08-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535466 SCV004720405 benign FANCM-related disorder 2019-09-18 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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