ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1641+2_1641+3del

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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003110175 SCV003762180 likely pathogenic Neurofibromatosis, type 1 2023-02-02 criteria provided, single submitter clinical testing

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