ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4709G>A (p.Arg1570His)

gnomAD frequency: 0.00016  dbSNP: rs201803784
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000402989 SCV000558916 likely benign Fanconi anemia 2024-01-19 criteria provided, single submitter clinical testing
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV001030549 SCV001193593 uncertain significance Hereditary breast ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research
Sema4, Sema4 RCV002256202 SCV002529860 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-29 criteria provided, single submitter curation
GeneDx RCV003229827 SCV003927595 uncertain significance not provided 2022-11-23 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)
PreventionGenetics, part of Exact Sciences RCV004544559 SCV004766094 likely benign FANCM-related disorder 2022-12-23 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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