ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2322G>A (p.Pro774=)

gnomAD frequency: 0.00001  dbSNP: rs931091451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875584 SCV001018029 likely benign Fanconi anemia 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495316 SCV002802675 likely benign Fanconi anemia complementation group A 2021-08-23 criteria provided, single submitter clinical testing

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