ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.483C>T (p.Phe161=)

gnomAD frequency: 0.00001  dbSNP: rs769389376
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001445212 SCV001648236 likely benign Fanconi anemia 2023-12-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501566 SCV002797221 likely benign Fanconi anemia complementation group A 2022-04-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003416340 SCV004143620 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing FANCA: BP4, BP7

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