ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1956G>C (p.Leu652=)

gnomAD frequency: 0.00001  dbSNP: rs770437879
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093437 SCV001250414 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing FANCI: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003635938 SCV004449436 likely benign Fanconi anemia 2023-11-05 criteria provided, single submitter clinical testing

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