ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2292-6T>C

gnomAD frequency: 0.00001  dbSNP: rs772352819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002181333 SCV002480213 likely benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002181333 SCV002529818 uncertain significance Fanconi anemia 2022-01-21 criteria provided, single submitter curation

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