ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1294-17T>C

gnomAD frequency: 0.00001  dbSNP: rs1483700241
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003636927 SCV004399524 likely benign Fanconi anemia 2023-06-16 criteria provided, single submitter clinical testing

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