ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3241_3626+1del

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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 RCV000779594 SCV000574712 pathogenic Fanconi anemia 2017-02-01 no assertion criteria provided research this mutaton is asociated with severe Fanconi anemia patient

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