ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1280_1292del (p.Pro427fs)

dbSNP: rs1135402804
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics, University of Parma RCV000497156 SCV000588713 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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