ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu)

gnomAD frequency: 0.00243  dbSNP: rs151071546
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233464 SCV000290507 benign Fanconi anemia 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001570689 SCV001795024 uncertain significance not provided 2025-03-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in cases and controls in a breast cancer study (PMID: 33471991); This variant is associated with the following publications: (PMID: 33471991)
Genetic Services Laboratory, University of Chicago RCV001820757 SCV002069029 likely benign not specified 2021-06-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255337 SCV002527306 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-07 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001820757 SCV002774601 benign not specified 2021-07-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001570689 SCV005911147 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing FANCM: BP4, BS2

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