ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1472_1566+1del

dbSNP: rs1567628967
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics and Enzymology, National Research Centre RCV000779593 SCV000574711 pathogenic Fanconi anemia 2017-02-01 no assertion criteria provided research this mutaton is asociated with Moderate Fanconi anemia patient

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