ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.317A>C (p.Glu106Ala)

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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 Goettingen RCV004557248 SCV005046418 uncertain significance Neurofibromatosis, type 1 2024-05-30 criteria provided, single submitter clinical testing

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