ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2988T>C (p.Tyr996=)

gnomAD frequency: 0.00001  dbSNP: rs373971974
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000925963 SCV001071518 likely benign Fanconi anemia 2022-05-11 criteria provided, single submitter clinical testing
GeneDx RCV003332271 SCV004039935 uncertain significance not provided 2023-04-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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