ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile)

gnomAD frequency: 0.00008  dbSNP: rs771007866
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501276 SCV000594672 uncertain significance not specified 2017-04-03 criteria provided, single submitter clinical testing
Invitae RCV001516277 SCV001724539 benign Fanconi anemia 2021-12-08 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237883 SCV002009621 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001516277 SCV002534218 benign Fanconi anemia 2020-08-10 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003237883 SCV004166571 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing FANCB: BP4, BS2

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