ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2326-6_2338del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Bochum, Ruhr University Bochum RCV003334420 SCV004042740 likely pathogenic Neurofibromatosis, type 1 2023-09-25 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PVS1, PM2_SUP

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