ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3394del (p.Arg1132fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002468865 SCV002765055 likely pathogenic Neurofibromatosis, type 1 2022-11-17 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PM2_SUP

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