ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.59C>G (p.Ser20Cys)

gnomAD frequency: 0.00006  dbSNP: rs199699785
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630898 SCV000751871 likely benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001541811 SCV001759844 uncertain significance not provided 2023-05-31 criteria provided, single submitter clinical testing Observed in large population cohorts (gnomAD; internal data); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with breast cancer, but also in unaffected controls (Dorling et al., 2021); This variant is associated with the following publications: (PMID: 28881617, 33471991)
Sema4, Sema4 RCV002255481 SCV002529893 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-27 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001541811 SCV004218837 likely benign not provided 2023-06-05 criteria provided, single submitter clinical testing

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