ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.693G>A (p.Lys231=)

gnomAD frequency: 0.00001  dbSNP: rs202207657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002256982 SCV002527970 likely benign Fanconi anemia 2021-12-23 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003120857 SCV003784319 likely benign Fanconi anemia complementation group E 2024-04-25 criteria provided, single submitter clinical testing

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