ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2240A>G (p.His747Arg)

gnomAD frequency: 0.00003  dbSNP: rs181827583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000280719 SCV000937472 likely benign Fanconi anemia 2025-01-15 criteria provided, single submitter clinical testing
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV001030476 SCV001193584 likely benign Hereditary breast ovarian cancer syndrome 2022-03-30 criteria provided, single submitter research
GeneDx RCV001597071 SCV001830584 uncertain significance not provided 2025-01-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32566746)

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