ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1699-11C>T

gnomAD frequency: 0.00003  dbSNP: rs753750358
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237704 SCV002011546 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074054 SCV002385138 likely benign Fanconi anemia 2023-11-21 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002074054 SCV002529808 uncertain significance Fanconi anemia 2021-12-02 criteria provided, single submitter curation

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