ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4563A>C (p.Glu1521Asp)

gnomAD frequency: 0.00382  dbSNP: rs113986680
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232042 SCV000290515 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001564322 SCV001787470 likely benign not provided 2020-09-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820758 SCV002067609 benign not specified 2020-11-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541450 SCV004794250 benign FANCM-related disorder 2019-06-04 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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