ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2152-20T>A

gnomAD frequency: 0.00016  dbSNP: rs200403206
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002127376 SCV002403319 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480960 SCV002801674 likely benign Fanconi anemia complementation group A 2021-11-05 criteria provided, single submitter clinical testing

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