ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.512del (p.Asn171fs)

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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 RCV003313751 SCV004012892 pathogenic Neurofibromatosis, type 1 2023-07-13 criteria provided, single submitter clinical testing

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