ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe) (rs1216426444)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Genetics,University of Gothenburg RCV000656367 SCV000777897 likely pathogenic Fanconi anemia, complementation group A 2017-01-01 no assertion criteria provided clinical testing
Department of Pathology and Genetics,University of Gothenburg RCV000656369 SCV000777899 uncertain significance Neuroblastoma 2017-01-01 no assertion criteria provided clinical testing

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