ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.888G>A (p.Arg296=)

gnomAD frequency: 0.00002  dbSNP: rs942855447
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875447 SCV001017777 likely benign Fanconi anemia 2023-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495314 SCV002803342 likely benign Fanconi anemia complementation group A 2021-10-22 criteria provided, single submitter clinical testing

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