ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2151+20A>G

gnomAD frequency: 0.00002  dbSNP: rs374555419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002216174 SCV002351613 likely benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494107 SCV002802042 likely benign Fanconi anemia complementation group A 2021-09-07 criteria provided, single submitter clinical testing

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