ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2890-13C>T

gnomAD frequency: 0.00010  dbSNP: rs377269890
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002199108 SCV002491198 likely benign Fanconi anemia 2023-11-25 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002199108 SCV002529832 uncertain significance Fanconi anemia 2021-05-30 criteria provided, single submitter curation

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