ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1400del (p.Thr467fs)

dbSNP: rs1135402808
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003321638 SCV004026158 pathogenic not provided 2022-08-30 criteria provided, single submitter clinical testing PVS1, PM1, PM2_SUP
Medical Genetics, University of Parma RCV000497080 SCV000588718 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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