ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3949C>T (p.Gln1317Ter) (rs758856471)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001311060 SCV001501091 likely pathogenic not provided 2020-12-01 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001773621 SCV002011138 pathogenic Fanconi anemia, complementation group I 2021-11-03 criteria provided, single submitter clinical testing

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